G39A (p.Gly39Ala) variant of BAX (Apoptosis regulator BAX)
G39A (p.Gly39Ala) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G39A (p.Gly39Ala) variant details
- p.Gly39Ala
- cosmic curated COSV53171
- 1000Genomes rs147630961
- ESP rs147630961
- ExAC rs147630961
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.01
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available