S139N (p.Ser139Asn) variant of GJB2 (Gap junction beta-2 protein)
S139N (p.Ser139Asn) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mutilating keratoderma; Palmoplantar keratoderma-deafness syndrome; Knuckle pads. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S139N (p.Ser139Asn) variant details
- p.Ser139Asn
- rs76434661
- ClinGen CA172232
- ClinVar RCV000037851
- ClinVar RCV000146022
- Pathogenic/Likely pathogenic
- Mutilating keratoderma; Palmoplantar keratoderma-deafness syndrome; Knuckle pads
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.63
- MetaLR 0.90
- MetaSVM 0.92
- CADD 23.70
- PolyPhen-2 0.41
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mutilating keratoderma; Palmoplantar keratoderma-deafness syndro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)