N14N (p.Asn14Asn) variant of GJB6 (Gap junction beta-6 protein)
N14N (p.Asn14Asn) in GJB6 (Gap junction beta-6 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
N14N (p.Asn14Asn) variant details
- p.Asn14Asn
- rs372474784
- gnomAD 13-20223439-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 9.19
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Literature evidence available