G39R (p.Gly39Arg) variant of BAX (Apoptosis regulator BAX)
G39R (p.Gly39Arg) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- rs36017265
- UniProt VAR 047053
- ESP rs36017265
- ExAC rs36017265
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.09
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available