N14K (p.Asn14Lys) variant of GJB2 (Gap junction beta-2 protein)
N14K (p.Asn14Lys) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
N14K (p.Asn14Lys) variant details
- p.Asn14Lys
- rs1165937383
- gnomAD 13-20189540-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 26.60
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available