F30C (p.Phe30Cys) variant of BAX (Apoptosis regulator BAX)
F30C (p.Phe30Cys) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
F30C (p.Phe30Cys) variant details
- p.Phe30Cys
- gnomAD 19-48955689-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.37
- MetaLR 0.14
- MetaSVM -0.96
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available