Q94H (p.Gln94His) variant of BAK1 (Q16611)
Q94H (p.Gln94His) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q94H (p.Gln94His) variant details
- p.Gln94His
- gnomAD 6-33575366-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.97
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available