C58Y (p.Cys58Tyr) variant of DSG1 (Desmoglein-1)
C58Y (p.Cys58Tyr) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
C58Y (p.Cys58Tyr) variant details
- p.Cys58Tyr
- gnomAD 18-31326962-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.41
- MetaLR 0.27
- MetaSVM -0.50
- CADD 25.40
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available