A35S (p.Ala35Ser) variant of BAX (Apoptosis regulator BAX)
A35S (p.Ala35Ser) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A35S (p.Ala35Ser) variant details
- p.Ala35Ser
- ExAC rs750670287
- gnomAD rs750670287
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.07
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.07
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available