R26* (p.Arg26Ter) variant of DSG1 (Desmoglein-1)
R26* (p.Arg26Ter) in DSG1 (Desmoglein-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R26* (p.Arg26Ter) variant details
- p.Arg26Ter
- rs397515639
- ClinGen CA145276
- ClinVar RCV000074351
- ClinVar RCV000493440
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar… (PMID 11313759)
- Cited in: Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. (PMID 15897387)