G11V (p.Gly11Val) variant of BAX (Apoptosis regulator BAX)
G11V (p.Gly11Val) 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.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- gnomAD 19-48954960-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -1.01
- CADD 25.90
- PolyPhen-2 0.34
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available