A317P (p.Ala317Pro) variant of DES (Desmin)
A317P (p.Ala317Pro) 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 record also includes published literature and structural context.
A317P (p.Ala317Pro) variant details
- p.Ala317Pro
- rs2545253097
- ClinVar RCV004587620
- Likely pathogenic
- Desmin-related myofibrillar myopathy
- Missense
- ClinVar: Likely pathogenic (Desmin-related myofibrillar myopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)