S19T (p.Ser19Thr) variant of GJB2 (Gap junction beta-2 protein)
S19T (p.Ser19Thr) 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 Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S19T (p.Ser19Thr) variant details
- p.Ser19Thr
- rs80338941
- ClinGen CA342005
- cosmic curated COSV67010
- ClinVar RCV000020575
- Pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.63
- MetaLR 0.94
- MetaSVM 1.08
- CADD 23.10
- PolyPhen-2 0.40
- SIFT 0.01
- ClinVar: Pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)