G23E (p.Gly23Glu) variant of BAX (Apoptosis regulator BAX)
G23E (p.Gly23Glu) 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.
G23E (p.Gly23Glu) variant details
- p.Gly23Glu
- gnomAD 19-48955581-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.23
- MetaLR 0.16
- MetaSVM -0.88
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available