R59H (p.Arg59His) variant of DSG1 (Desmoglein-1)
R59H (p.Arg59His) 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.
R59H (p.Arg59His) variant details
- p.Arg59His
- rs757841646
- ClinGen CA8925775
- ClinVar RCV001984877
- ExAC rs757841646
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.37
- MetaLR 0.35
- MetaSVM -0.32
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available