L40F (p.Leu40Phe) variant of DMD (Dystrophin)
L40F (p.Leu40Phe) in DMD (Dystrophin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L40F (p.Leu40Phe) variant details
- p.Leu40Phe
- rs1001154410
- ClinGen CA412674952
- cosmic curated COSV10942
- ClinVar RCV002028766
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.84
- MetaLR 0.97
- MetaSVM 1.10
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)