S31C (p.Ser31Cys) variant of DES (Desmin)
S31C (p.Ser31Cys) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S31C (p.Ser31Cys) variant details
- p.Ser31Cys
- rs1553603207
- ClinGen CA350682818
- ClinVar RCV000592042
- ClinVar RCV005223032
- Uncertain significance
- Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.31
- CADD 21.90
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)