G36E (p.Gly36Glu) variant of BAX (Apoptosis regulator BAX)
G36E (p.Gly36Glu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G36E (p.Gly36Glu) variant details
- p.Gly36Glu
- gnomAD 19-48955707-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -0.95
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available