S13F (p.Ser13Phe) variant of DES (Desmin)
S13F (p.Ser13Phe) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Desmin-related myofibrillar myopathy; not provided; Primary dilated cardiomyopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
S13F (p.Ser13Phe) variant details
- p.Ser13Phe
- rs62636495
- ClinGen CA261520
- ClinVar RCV000037240
- ClinVar RCV000056801
- Pathogenic
- Desmin-related myofibrillar myopathy; not provided; Primary dilated cardiomyopat
- 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: Pathogenic (Desmin-related myofibrillar myopathy; not provided; Primary dila)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F… (PMID 17720647)
- Cited in: Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. (PMID 18061454)