Q32K (p.Gln32Lys) variant of BAX (Apoptosis regulator BAX)
Q32K (p.Gln32Lys) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q32K (p.Gln32Lys) variant details
- p.Gln32Lys
- gnomAD 19-48955694-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.10
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available