S13P (p.Ser13Pro) variant of DES (Desmin)
S13P (p.Ser13Pro) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Desmin-related myofibrillar myopathy; Autosomal dominant DES-related disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
S13P (p.Ser13Pro) variant details
- p.Ser13Pro
- rs1954359599
- ClinGen CA350682267
- ClinVar RCV001299265
- ClinVar RCV003166680
- Conflicting interpretations
- Desmin-related myofibrillar myopathy; Autosomal dominant DES-related disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 0.87
- MetaLR 0.79
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.68
- ClinVar: Conflicting classifications of pathogenicity (Desmin-related myofibrillar myopathy; Autosomal dominant DES-rel)
- EBI: Likely pathogenic (in MFM1)
- UniProt: Likely 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)