C64Y (p.Cys64Tyr) variant of GJB2 (Gap junction beta-2 protein)
C64Y (p.Cys64Tyr) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
C64Y (p.Cys64Tyr) variant details
- p.Cys64Tyr
- rs2500252361
- ClinGen CA387461656
- ClinVar RCV003331811
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.97
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available