S7F (p.Ser7Phe) variant of DES (Desmin)
S7F (p.Ser7Phe) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S7F (p.Ser7Phe) variant details
- p.Ser7Phe
- rs903985237
- ClinGen CA65980518
- ClinVar RCV000730386
- UniProt VAR 067207
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.56
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Population evidence available
- Structural context available
- Cited in: Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. (PMID 22106715)
- Cited in: A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a… (PMID 10545598)