S13Y (p.Ser13Tyr) variant of DES (Desmin)
S13Y (p.Ser13Tyr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
S13Y (p.Ser13Tyr) variant details
- p.Ser13Tyr
- rs62636495
- ClinGen CA350682283
- ClinVar RCV000651549
- ClinVar RCV000730717
- Uncertain significance
- Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 0.91
- MetaLR 0.83
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.73
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy; not provided)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- 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)