Y65C (p.Tyr65Cys) variant of GJB2 (Gap junction beta-2 protein)
Y65C (p.Tyr65Cys) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mutilating keratoderma; Autosomal recessive nonsyndromic hearing loss 1A; Autoso. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Y65C (p.Tyr65Cys) variant details
- p.Tyr65Cys
- rs111033203
- ClinGen CA261639
- ClinVar RCV000037819
- ClinVar RCV001731333
- Conflicting interpretations
- Mutilating keratoderma; Autosomal recessive nonsyndromic hearing loss 1A; Autoso
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 1.01
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Mutilating keratoderma; Autosomal recessive nonsyndromic hearing)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)