S2I (p.Ser2Ile) variant of DES (Desmin)
S2I (p.Ser2Ile) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Desmin-related myofibrillar myopathy; Primary familial dilated cardiomyopathy; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S2I (p.Ser2Ile) variant details
- p.Ser2Ile
- rs58999456
- ClinGen CA217078
- ClinVar RCV000056804
- ClinVar RCV000794180
- Pathogenic/Likely pathogenic
- Desmin-related myofibrillar myopathy; Primary familial dilated cardiomyopathy; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.67
- CADD 29.00
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Desmin-related myofibrillar myopathy; Primary familial dilated c)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Population evidence available
- Structural context available
- Cited in: Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. (PMID 14711882)
- Cited in: Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar… (PMID 25208129)