Q3* (p.Gln3Ter) variant of DES (Desmin)
Q3* (p.Gln3Ter) in DES (Desmin) 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, published literature, and structural context.
Q3* (p.Gln3Ter) variant details
- p.Gln3Ter
- rs1954358233
- ClinGen CA350681964
- ClinVar RCV001037267
- ClinVar RCV003490014
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.851
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies [RETIRED]: report of… (PMID 25313375)