V83F (p.Val83Phe) variant of DMD (Dystrophin)
V83F (p.Val83Phe) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Duchenne muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V83F (p.Val83Phe) variant details
- p.Val83Phe
- rs1358774744
- ClinGen CA412674669
- ClinVar RCV003018059
- TOPMed rs1358774744
- Uncertain significance
- Duchenne muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.56
- MetaLR 0.60
- MetaSVM -0.08
- CADD 22.80
- PolyPhen-2 0.53
- SIFT 0.09
- ClinVar: Uncertain significance (Duchenne muscular dystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Practice parameter: corticosteroid treatment of Duchenne dystrophy [RETIRED]: report of the Quality Standards… (PMID 15642897)
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)