R10H (p.Arg10His) variant of DES (Desmin)
R10H (p.Arg10His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R10H (p.Arg10His) variant details
- p.Arg10His
- rs757839952
- ClinGen CA2125004
- NCI-TCGA Cosmic COSV1009
- ClinVar RCV001863643
- Uncertain significance
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.45
- CADD 23.50
- PolyPhen-2 0.39
- SIFT 0.06
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)