L115F (p.Leu115Phe) variant of DES (Desmin)
L115F (p.Leu115Phe) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
L115F (p.Leu115Phe) variant details
- p.Leu115Phe
- rs1954372352
- ClinGen CA350685389
- ClinVar RCV002594428
- TOPMed rs1954372352
- Pathogenic
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.96
- CADD 28.30
- ClinVar: Pathogenic (Desmin-related myofibrillar myopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies [RETIRED]: report of… (PMID 25313375)