S199F (p.Ser199Phe) variant of GJB2 (Gap junction beta-2 protein)
S199F (p.Ser199Phe) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GJB2-related disorder; Rare genetic deafness; Ichthyosis, hystrix-like, with hea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
S199F (p.Ser199Phe) variant details
- p.Ser199Phe
- rs771748289
- ClinGen CA274470
- ClinVar RCV000169613
- ClinVar RCV000609655
- Pathogenic
- GJB2-related disorder; Rare genetic deafness; Ichthyosis, hystrix-like, with hea
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.09
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (GJB2-related disorder; Rare genetic deafness; Ichthyosis, hystri)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)