R89W (p.Arg89Trp) variant of VCP (P55072)
R89W (p.Arg89Trp) 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 0.95 / 1. The record also includes published literature and structural context.
R89W (p.Arg89Trp) variant details
- p.Arg89Trp
- rs1828865320
- ClinGen CA373293559
- ClinVar RCV001308126
- ClinVar RCV004720847
- Conflicting interpretations
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Conflicting classifications of pathogenicity (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)