L40V (p.Leu40Val) variant of DMD (Dystrophin)
L40V (p.Leu40Val) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- rs1001154410
- ClinGen CA328578640
- ClinVar RCV002985321
- TOPMed rs1001154410
- Uncertain significance
- Duchenne muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.81
- MetaLR 0.95
- MetaSVM 1.10
- CADD 24.40
- PolyPhen-2 0.74
- SIFT 0.02
- ClinVar: Uncertain significance (Duchenne muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)