L338P (p.Leu338Pro) variant of DES (Desmin)
L338P (p.Leu338Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L338P (p.Leu338Pro) variant details
- p.Leu338Pro
- rs57496341
- ClinGen CA10581950
- ClinVar RCV000227930
- Ensembl rs57496341
- Likely pathogenic
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.95
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.06
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Desmin-related myofibrillar myopathy)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)