G12A (p.Gly12Ala) variant of BAX (Apoptosis regulator BAX)
G12A (p.Gly12Ala) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- gnomAD rs1353084211
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.08
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available