G3V (p.Gly3Val) variant of BAX (Apoptosis regulator BAX)
G3V (p.Gly3Val) 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, published literature, and structural context.
G3V (p.Gly3Val) variant details
- p.Gly3Val
- gnomAD 19-48954936-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.10
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available