E17G (p.Glu17Gly) variant of BAX (Apoptosis regulator BAX)
E17G (p.Glu17Gly) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E17G (p.Glu17Gly) variant details
- p.Glu17Gly
- gnomAD 19-48955563-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.25
- MetaLR 0.13
- MetaSVM -0.96
- CADD 32.00
- PolyPhen-2 0.61
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available