R45* (p.Arg45Ter) variant of DSG1 (Desmoglein-1)
R45* (p.Arg45Ter) 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 0.41 / 1. The record also includes population frequency data and structural context.
R45* (p.Arg45Ter) variant details
- p.Arg45Ter
- rs1182196436
- ClinGen CA402127750
- ClinVar RCV000585694
- ClinVar RCV001200414
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available