R155C (p.Arg155Cys) variant of VCP (P55072)
R155C (p.Arg155Cys) 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 0.76 / 1. The record also includes published literature and structural context.
R155C (p.Arg155Cys) variant details
- p.Arg155Cys
- rs121909330
- ClinGen CA254398
- NCI-TCGA Cosmic COSV1007
- NCI-TCGA Cosmic COSV6271
- Pathogenic/Likely pathogenic
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.17
- ClinVar: Pathogenic/Likely pathogenic (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Pathogenic (in IBMPFD1)
- UniProt: Pathogenic (in IBMPFD1)
- 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: Mutant valosin-containing protein causes a novel type of frontotemporal dementia. (PMID 15732117)