V11A (p.Val11Ala) variant of DES (Desmin)
V11A (p.Val11Ala) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Desmin-related myofibrillar myopathy. The record also includes published literature and structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- rs2545245505
- ClinGen CA350682212
- ClinVar RCV003801092
- Uncertain significance
- Desmin-related myofibrillar myopathy
- Missense
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)