N206S (p.Asn206Ser) variant of GJB2 (Gap junction beta-2 protein)
N206S (p.Asn206Ser) 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 Rare genetic deafness; Autosomal dominant keratitis-ichthyosis-hearing loss synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
N206S (p.Asn206Ser) variant details
- p.Asn206Ser
- rs111033294
- ClinGen CA172236
- ClinVar RCV000037868
- ClinVar RCV000146025
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Autosomal dominant keratitis-ichthyosis-hearing loss synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.78
- MetaLR 0.89
- MetaSVM 0.89
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Autosomal dominant keratitis-ichthyosis-h)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)