L47Q (p.Leu47Gln) variant of BAX (Apoptosis regulator BAX)
L47Q (p.Leu47Gln) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L47Q (p.Leu47Gln) variant details
- p.Leu47Gln
- gnomAD 19-48955740-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.13
- MetaLR 0.13
- MetaSVM -0.96
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available