R89Q (p.Arg89Gln) variant of VCP (P55072)
R89Q (p.Arg89Gln) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R89Q (p.Arg89Gln) variant details
- p.Arg89Gln
- rs900105227
- ClinGen CA192683160
- ClinVar RCV002927327
- Ensembl rs900105227
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.80
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- 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)