H100Y (p.His100Tyr) variant of GJB2 (Gap junction beta-2 protein)
H100Y (p.His100Tyr) 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 Monogenic hearing loss; Rare genetic deafness; Autosomal recessive nonsyndromic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
H100Y (p.His100Tyr) variant details
- p.His100Tyr
- rs143343083
- ClinGen CA172221
- ClinVar RCV000146015
- ClinVar RCV000169347
- Pathogenic/Likely pathogenic
- Monogenic hearing loss; Rare genetic deafness; Autosomal recessive nonsyndromic
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.80
- MetaLR 0.96
- MetaSVM 1.11
- CADD 26.00
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Monogenic hearing loss; Rare genetic deafness; Autosomal recessi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)