A34V (p.Ala34Val) variant of SRC (P12931)
A34V (p.Ala34Val) in SRC (P12931) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- TOPMed rs1447509893
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.12
- CADD 15.10
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available
- SRC SH3 domain domainome 1.0: score 0.0404