Q81* (p.Gln81Ter) variant of DSG1 (Desmoglein-1)
Q81* (p.Gln81Ter) 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 0.85 / 1. The record also includes population frequency data and structural context.
Q81* (p.Gln81Ter) variant details
- p.Gln81Ter
- rs1598699465
- ClinGen CA402128063
- ClinVar RCV001092834
- Ensembl rs1598699465
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available