N62N (p.Asn62Asn) variant of GJB2 (Gap junction beta-2 protein)
N62N (p.Asn62Asn) 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.
N62N (p.Asn62Asn) variant details
- p.Asn62Asn
- rs397516869
- gnomAD 13-20189396-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0812
- CADD 0.08
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available