Q18H (p.Gln18His) variant of BAX (Apoptosis regulator BAX)
Q18H (p.Gln18His) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- gnomAD 19-48955567-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.04
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available