Q7L (p.Gln7Leu) variant of BAX (Apoptosis regulator BAX)
Q7L (p.Gln7Leu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q7L (p.Gln7Leu) variant details
- p.Gln7Leu
- gnomAD 19-48954948-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.02
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available