C53Y (p.Cys53Tyr) variant of GJB2 (Gap junction beta-2 protein)
C53Y (p.Cys53Tyr) 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 Hearing impairment. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
C53Y (p.Cys53Tyr) variant details
- p.Cys53Tyr
- rs587783645
- ClinGen CA172215
- cosmic curated COSV10822
- ClinVar RCV000146009
- Pathogenic
- Hearing impairment
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- CADD 24.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hearing impairment)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available