A21V (p.Ala21Val) variant of SRC (P12931)
A21V (p.Ala21Val) in SRC (P12931) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- Ensembl rs2070409442
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.19
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the East Asian population (allele frequency 5.3e-05)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.879