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Preset Targets:

Sequence & Mutation Simulator

TP53 · Exon 7
chr17:7675088
Select Base Position: Locus 7,675,088 (Center)
Reference Base
G
Guanine
chr17:7675088
Mutated Base (Alt)
Alternative Allele Disruption Comparison Impact score across A, C, T substitutions
High Disruption (>0.75)
Moderate (0.40 - 0.75)
Benign / Tolerated (<0.40)

Predicted Impact Profile

c.742C>T (p.R248Q)
Predicted Impact Score High Impact
0.942 / 1.000
AlphaGenome deep model predicts severe functional destabilization.
Splicing Disruption
0.12
Low acceptor site alteration
Regulatory Effect
Enhancer Silencing
Motif disruption in intron/exon boundary
Variant Type
Missense
Codon change Arg248Gln
PhyloP Conservation
9.41
High vertebrate constraint
Genomic Evidence Attribution
Feature Observation Delta / Status