H104L (p.His104Leu) variant of DMD (Dystrophin)
H104L (p.His104Leu) 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 0.70 / 1. The record also includes published literature and structural context.
H104L (p.His104Leu) variant details
- p.His104Leu
- rs2148850239
- ClinGen CA412674509
- ClinVar RCV001364677
- Ensembl rs2148850239
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- AlphaMissense 0.41
- MetaLR 0.76
- MetaSVM 0.47
- PolyPhen-2 1.00
- SIFT 0.04
- MutPred 0.57
- EBI: Likely benign
- UniProt: Likely benign
- 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)