G40V (p.Gly40Val) variant of BAX (Apoptosis regulator BAX)
G40V (p.Gly40Val) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G40V (p.Gly40Val) variant details
- p.Gly40Val
- gnomAD 19-48955719-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -1.01
- CADD 24.00
- PolyPhen-2 0.06
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available