F30L (p.Phe30Leu) variant of BAX (Apoptosis regulator BAX)
F30L (p.Phe30Leu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- gnomAD 19-48955690-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.12
- MetaLR 0.21
- MetaSVM -0.48
- CADD 32.00
- PolyPhen-2 0.27
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available