A42V (p.Ala42Val) variant of BAX (Apoptosis regulator BAX)
A42V (p.Ala42Val) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- ExAC rs763971444
- gnomAD rs763971444
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.05
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available