S12F (p.Ser12Phe) variant of DES (Desmin)
S12F (p.Ser12Phe) 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; DES-related desminopathy; Primary dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S12F (p.Ser12Phe) variant details
- p.Ser12Phe
- rs267607495
- ClinGen CA217069
- ClinVar RCV000056800
- ClinVar RCV000154600
- Pathogenic/Likely pathogenic
- Desmin-related myofibrillar myopathy; DES-related desminopathy; Primary dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.87
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Desmin-related myofibrillar myopathy; DES-related desminopathy;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)