R26Q (p.Arg26Gln) variant of DSG1 (Desmoglein-1)
R26Q (p.Arg26Gln) 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 0.19 / 1. The record also includes population frequency data and structural context.
R26Q (p.Arg26Gln) variant details
- p.Arg26Gln
- rs371750753
- ClinGen CA8925744
- ClinVar RCV002604482
- ESP rs371750753
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.05
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available