Q7K (p.Gln7Lys) variant of BAX (Apoptosis regulator BAX)
Q7K (p.Gln7Lys) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q7K (p.Gln7Lys) variant details
- p.Gln7Lys
- gnomAD 19-48954947-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.04
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available