S31R (p.Ser31Arg) variant of DES (Desmin)
S31R (p.Ser31Arg) 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; Dilated cardiomyopathy 1I; Neurogenic scap. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S31R (p.Ser31Arg) variant details
- p.Ser31Arg
- rs2017800
- 1000Genomes rs2017800
- ESP rs2017800
- ExAC rs2017800
- Uncertain significance
- Desmin-related myofibrillar myopathy; Dilated cardiomyopathy 1I; Neurogenic scap
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.35
- AlphaMissense 0.50
- MetaLR 0.41
- MetaSVM -0.23
- CADD 22.50
- PolyPhen-2 0.19
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy; Dilated cardiomyopathy 1I;)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- 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)