N14N (p.Asn14Asn) variant of GJB2 (Gap junction beta-2 protein)
N14N (p.Asn14Asn) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N14N (p.Asn14Asn) variant details
- p.Asn14Asn
- rs1454922285
- gnomAD 13-20189540-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 3.73
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available