L377P (p.Leu377Pro) variant of DES (Desmin)
L377P (p.Leu377Pro) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaese. 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.
L377P (p.Leu377Pro) variant details
- p.Leu377Pro
- rs1432061016
- ClinGen CA350694440
- ClinVar RCV001975552
- ClinVar RCV005409859
- Likely pathogenic
- Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaese
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal)
- EBI: Likely pathogenic
- UniProt: Likely 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)