V50L (p.Val50Leu) variant of BAX (Apoptosis regulator BAX)
V50L (p.Val50Leu) 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.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- gnomAD 19-48955748-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.03
- CADD 9.86
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available