G4A (p.Gly4Ala) variant of GJB2 (Gap junction beta-2 protein)
G4A (p.Gly4Ala) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G4A (p.Gly4Ala) variant details
- p.Gly4Ala
- rs1555342014
- gnomAD 13-20189570-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 22.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available