Q85* (p.Gln85Ter) variant of DMD (Dystrophin)
Q85* (p.Gln85Ter) in DMD (Dystrophin) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Q85* (p.Gln85Ter) variant details
- p.Gln85Ter
- rs128626234
- ClinGen CA341028
- ClinVar RCV000011972
- Ensembl rs128626234
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. (PMID 7951253)
- Cited in: Practice parameter: corticosteroid treatment of Duchenne dystrophy [RETIRED]: report of the Quality Standards… (PMID 15642897)