S4C (p.Ser4Cys) variant of CYP2B6 (Cytochrome P450 2B6)
S4C (p.Ser4Cys) in CYP2B6 (Cytochrome P450 2B6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S4C (p.Ser4Cys) variant details
- p.Ser4Cys
- gnomAD 19-40991315-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.20
- MetaLR 0.14
- MetaSVM -0.95
- CADD 15.30
- PolyPhen-2 0.44
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available