P8H (p.Pro8His) variant of BAX (Apoptosis regulator BAX)
P8H (p.Pro8His) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P8H (p.Pro8His) variant details
- p.Pro8His
- gnomAD 19-48954951-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.08
- CADD 25.60
- PolyPhen-2 0.15
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available