G10C (p.Gly10Cys) variant of BAX (Apoptosis regulator BAX)
G10C (p.Gly10Cys) 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.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- gnomAD 19-48954956-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -1.07
- CADD 28.40
- PolyPhen-2 0.32
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available