Y32C (p.Tyr32Cys) variant of DSG1 (Desmoglein-1)
Y32C (p.Tyr32Cys) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Y32C (p.Tyr32Cys) variant details
- p.Tyr32Cys
- gnomAD rs1388945186
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.23
- MetaLR 0.17
- MetaSVM -0.84
- CADD 24.50
- PolyPhen-2 0.66
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available