S4C (p.Ser4Cys) variant of BAX (Apoptosis regulator BAX)
S4C (p.Ser4Cys) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S4C (p.Ser4Cys) variant details
- p.Ser4Cys
- ExAC rs749316753
- TOPMed rs749316753
- gnomAD rs749316753
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.05
- CADD 33.00
- PolyPhen-2 0.25
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available