R95C (p.Arg95Cys) variant of VCP (P55072)
R95C (p.Arg95Cys) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R95C (p.Arg95Cys) variant details
- p.Arg95Cys
- rs121909332
- ClinGen CA10603200
- ClinVar RCV000280148
- ClinVar RCV000761344
- Conflicting interpretations
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.61
- AlphaMissense 0.69
- MetaLR 0.66
- MetaSVM 0.33
- CADD 26.80
- PolyPhen-2 0.40
- ClinVar: Conflicting classifications of pathogenicity (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Pathogenic (in IBMPFD1)
- UniProt: Pathogenic (in IBMPFD1)
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task… (PMID 21914052)