R82W (p.Arg82Trp) variant of DMD (Dystrophin)
R82W (p.Arg82Trp) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R82W (p.Arg82Trp) variant details
- p.Arg82Trp
- rs772546251
- ClinGen CA10380219
- NCI-TCGA Cosmic COSV5589
- cosmic curated COSV55899
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.49
- MetaLR 0.79
- MetaSVM 0.37
- CADD 23.20
- PolyPhen-2 0.66
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)