S4F (p.Ser4Phe) variant of BAX (Apoptosis regulator BAX)
S4F (p.Ser4Phe) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S4F (p.Ser4Phe) variant details
- p.Ser4Phe
- gnomAD 19-48954939-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.06
- CADD 33.00
- PolyPhen-2 0.39
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available