G12R (p.Gly12Arg) variant of BAX (Apoptosis regulator BAX)
G12R (p.Gly12Arg) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- gnomAD 19-48954961-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 18.80
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available