M1L (p.Met1Leu) variant of DMD (Dystrophin)
M1L (p.Met1Leu) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Duchenne muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2148864234
- ClinVar RCV006588614
- Pathogenic
- Duchenne muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- MetaLR 0.12
- MetaSVM -0.99
- SIFT 0.51
- MutPred 0.97
- ClinVar: Pathogenic (Duchenne muscular dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)