G5A (p.Gly5Ala) variant of BAX (Apoptosis regulator BAX)
G5A (p.Gly5Ala) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- gnomAD 19-48954942-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.04
- CADD 24.70
- PolyPhen-2 0.24
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available