R7G (p.Arg7Gly) variant of DSG1 (Desmoglein-1)
R7G (p.Arg7Gly) 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 0.18 / 1. The record also includes population frequency data and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- rs150439970
- ClinGen CA8925722
- ClinVar RCV002637153
- ESP rs150439970
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.14
- MetaLR 0.18
- MetaSVM -0.88
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available