S16C (p.Ser16Cys) variant of BAX (Apoptosis regulator BAX)
S16C (p.Ser16Cys) 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.
S16C (p.Ser16Cys) variant details
- p.Ser16Cys
- ExAC rs762579313
- gnomAD rs762579313
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.12
- CADD 26.60
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available