P8S (p.Pro8Ser) variant of BAX (Apoptosis regulator BAX)
P8S (p.Pro8Ser) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- gnomAD 19-48954950-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.03
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available