H36L (p.His36Leu) variant of DMD (Dystrophin)
H36L (p.His36Leu) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar 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 0.41 / 1. The record also includes population frequency data and structural context.
H36L (p.His36Leu) variant details
- p.His36Leu
- ExAC rs751668434
- TOPMed rs751668434
- Uncertain significance
- Duchenne muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.38
- MetaLR 0.62
- MetaSVM 0.13
- CADD 23.20
- PolyPhen-2 0.08
- SIFT 0.61
- ClinVar: Uncertain significance (Duchenne muscular dystrophy)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available