H384R (p.His384Arg) variant of DES (Desmin)
H384R (p.His384Arg) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
H384R (p.His384Arg) variant details
- p.His384Arg
- rs1553603566
- ClinGen CA350694607
- ClinVar RCV002265824
- ClinVar RCV004002755
- Likely pathogenic
- Desmin-related myofibrillar myopathy; Dilated cardiomyopathy 1I; Neurogenic scap
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.90
- AlphaMissense 0.97
- MetaLR 0.74
- MetaSVM 0.63
- CADD 27.20
- PolyPhen-2 0.81
- ClinVar: Likely pathogenic (Desmin-related myofibrillar myopathy; Dilated cardiomyopathy 1I;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)