C32Y (p.Cys32Tyr) variant of DSC2 (Desmocollin-2)
C32Y (p.Cys32Tyr) in DSC2 (Desmocollin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
C32Y (p.Cys32Tyr) variant details
- p.Cys32Tyr
- Ensembl rs2144850464
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.36
- CADD 23.70
- PolyPhen-2 0.86
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available