A122V (p.Ala122Val) variant of BIN1 (O00499)
A122V (p.Ala122Val) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A122V (p.Ala122Val) variant details
- p.Ala122Val
- ExAC rs745382388
- gnomAD rs745382388
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.29
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available