N14N (p.Asn14Asn) variant of GJB1 (Gap junction beta-1 protein)
N14N (p.Asn14Asn) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N14N (p.Asn14Asn) variant details
- p.Asn14Asn
- rs1262031967
- gnomAD X-71223749-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 9.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available