P43S (p.Pro43Ser) variant of BAX (Apoptosis regulator BAX)
P43S (p.Pro43Ser) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- Ensembl rs1183813464
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.03
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available