R159C (p.Arg159Cys) variant of VCP (P55072)
R159C (p.Arg159Cys) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R159C (p.Arg159Cys) variant details
- p.Arg159Cys
- rs387906789
- ClinGen CA5039453
- ClinVar RCV000333881
- ClinVar RCV001095425
- Pathogenic/Likely pathogenic
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.94
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Pathogenic (in IBMPFD1)
- UniProt: Pathogenic (in IBMPFD1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia. (PMID 20301649)