V50G (p.Val50Gly) variant of BAX (Apoptosis regulator BAX)
V50G (p.Val50Gly) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V50G (p.Val50Gly) variant details
- p.Val50Gly
- gnomAD 19-48955748-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 7.66
- Population evidence available
- Structural context available
- Literature evidence available