R9S (p.Arg9Ser) variant of BAX (Apoptosis regulator BAX)
R9S (p.Arg9Ser) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- gnomAD 19-48954955-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.05
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.77
- Population evidence available
- Structural context available
- Literature evidence available