R59C (p.Arg59Cys) variant of DSG1 (Desmoglein-1)
R59C (p.Arg59Cys) in DSG1 (Desmoglein-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R59C (p.Arg59Cys) variant details
- p.Arg59Cys
- rs2071689533
- ClinGen CA402127905
- ClinVar RCV003714651
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.38
- MetaLR 0.31
- MetaSVM -0.40
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available