A46S (p.Ala46Ser) variant of BAX (Apoptosis regulator BAX)
A46S (p.Ala46Ser) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A46S (p.Ala46Ser) variant details
- p.Ala46Ser
- gnomAD 19-48955736-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.02
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available