G5V (p.Gly5Val) variant of BAX (Apoptosis regulator BAX)
G5V (p.Gly5Val) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD 19-48954942-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.12
- CADD 32.00
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available