G11A (p.Gly11Ala) variant of BAX (Apoptosis regulator BAX)
G11A (p.Gly11Ala) 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.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- rs1447224934
- gnomAD 19-48954956-G-GGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 28.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available