C60Y (p.Cys60Tyr) variant of GJB2 (Gap junction beta-2 protein)
C60Y (p.Cys60Tyr) in GJB2 (Gap junction beta-2 protein) is a missense change. 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.
C60Y (p.Cys60Tyr) variant details
- p.Cys60Tyr
- cosmic curated COSV67010
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.97
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available