Q85R (p.Gln85Arg) variant of DMD (Dystrophin)
Q85R (p.Gln85Arg) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q85R (p.Gln85Arg) variant details
- p.Gln85Arg
- rs1297662991
- ClinGen CA412674653
- ClinVar RCV000693610
- ClinVar RCV001825351
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.59
- MetaLR 0.81
- MetaSVM 0.54
- CADD 24.80
- PolyPhen-2 0.88
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)