R159H (p.Arg159His) variant of VCP (P55072)
R159H (p.Arg159His) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inclusion body myopathy with Paget disease of bone and frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R159H (p.Arg159His) variant details
- p.Arg159His
- rs121909335
- ClinGen CA254408
- ClinVar RCV000008995
- ClinVar RCV000276565
- Pathogenic
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.60
- CADD 23.20
- PolyPhen-2 0.11
- SIFT 0.11
- ClinVar: Pathogenic (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Pathogenic (in IBMPFD1)
- UniProt: Pathogenic (in IBMPFD1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant… (PMID 15034582)
- Cited in: Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. (PMID 16247064)