R49H (p.Arg49His) variant of DMD (Dystrophin)
R49H (p.Arg49His) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R49H (p.Arg49His) variant details
- p.Arg49His
- rs765584669
- ClinGen CA10380249
- NCI-TCGA Cosmic COSV5586
- cosmic curated COSV55866
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.71
- MetaLR 0.87
- MetaSVM 0.80
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- 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)