H104Y (p.His104Tyr) variant of DMD (Dystrophin)
H104Y (p.His104Tyr) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; Duchenne muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
H104Y (p.His104Tyr) variant details
- p.His104Tyr
- rs757270951
- ClinGen CA412674512
- ClinVar RCV002326068
- ClinVar RCV004801194
- Uncertain significance
- Cardiovascular phenotype; not specified; Duchenne muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.83
- MetaLR 0.90
- MetaSVM 0.97
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Duchenne muscular dystr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)