Q7H (p.Gln7His) variant of BAX (Apoptosis regulator BAX)
Q7H (p.Gln7His) in BAX (Apoptosis regulator BAX) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q7H (p.Gln7His) variant details
- p.Gln7His
- NCI-TCGA TCGA novel
- Ensembl rs2038063190
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.12
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available