C58R (p.Cys58Arg) variant of DSG1 (Desmoglein-1)
C58R (p.Cys58Arg) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
C58R (p.Cys58Arg) variant details
- p.Cys58Arg
- gnomAD 18-31326961-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.49
- MetaLR 0.27
- MetaSVM -0.55
- CADD 25.90
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available