N14S (p.Asn14Ser) variant of GJB2 (Gap junction beta-2 protein)
N14S (p.Asn14Ser) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
N14S (p.Asn14Ser) variant details
- p.Asn14Ser
- rs2137308851
- ClinGen CA387462199
- ClinVar RCV003063623
- Ensembl rs2137308851
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.75
- MetaLR 0.94
- MetaSVM 1.08
- CADD 23.50
- SIFT 0.03
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available