Q7Q (p.Gln7Gln) variant of GJB2 (Gap junction beta-2 protein)
Q7Q (p.Gln7Gln) 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.
Q7Q (p.Gln7Gln) variant details
- p.Gln7Gln
- rs137932057
- gnomAD 13-20189561-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0845
- CADD 0.54
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Literature evidence available