M1V (p.Met1Val) variant of DES (Desmin)
M1V (p.Met1Val) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Desmin-related myofibrillar myopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1057523274
- ClinGen CA16604392
- ClinVar RCV000417495
- ClinVar RCV001217218
- Conflicting interpretations
- not provided; Desmin-related myofibrillar myopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- MetaLR 0.63
- MetaSVM 0.37
- PolyPhen-2 0.71
- SIFT 0.01
- MutPred 0.98
- ClinVar: Conflicting classifications of pathogenicity (not provided; Desmin-related myofibrillar myopathy; Cardiovascul)
- 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)