R383H (p.Arg383His) variant of DES (Desmin)
R383H (p.Arg383His) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dilated cardiomyopathy 1I; Neurogenic scapuloperoneal syndrome, Kaeser type; Des. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R383H (p.Arg383His) variant details
- p.Arg383His
- rs1292042317
- ClinGen CA350694581
- NCI-TCGA Cosmic COSV6466
- Conflicting interpretations
- Dilated cardiomyopathy 1I; Neurogenic scapuloperoneal syndrome, Kaeser type; Des
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Dilated cardiomyopathy 1I; Neurogenic scapuloperoneal syndrome,)
- EBI: Likely pathogenic
- UniProt: Likely 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)