A49A (p.Ala49Ala) variant of GJB2 (Gap junction beta-2 protein)
A49A (p.Ala49Ala) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A49A (p.Ala49Ala) variant details
- p.Ala49Ala
- rs1431278544
- gnomAD 13-20189435-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0815
- CADD 0.23
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available