G11A (p.Gly11Ala) variant of GJB2 (Gap junction beta-2 protein)
G11A (p.Gly11Ala) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- rs1290698257
- gnomAD 13-20189536-GTTTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 27.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available