R82Q (p.Arg82Gln) variant of DMD (Dystrophin)
R82Q (p.Arg82Gln) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R82Q (p.Arg82Gln) variant details
- p.Arg82Gln
- rs1228664222
- ClinGen CA412674672
- NCI-TCGA Cosmic COSV5588
- cosmic curated COSV55886
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.26
- AlphaMissense 0.06
- MetaLR 0.37
- MetaSVM -0.55
- CADD 4.60
- PolyPhen-2 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Dystrophinopathies. (PMID 20301298)
- Cited in: Practice parameter: corticosteroid treatment of Duchenne dystrophy [RETIRED]: report of the Quality Standards… (PMID 15642897)