G12G (p.Gly12Gly) variant of BAX (Apoptosis regulator BAX)
G12G (p.Gly12Gly) in BAX (Apoptosis regulator BAX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G12G (p.Gly12Gly) variant details
- p.Gly12Gly
- rs200327680
- gnomAD 19-48955549-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 19.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available