R95G (p.Arg95Gly) variant of VCP (P55072)
R95G (p.Arg95Gly) 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 0.67 / 1. The record also includes published literature and structural context.
R95G (p.Arg95Gly) variant details
- p.Arg95Gly
- rs121909332
- ClinGen CA254402
- ClinVar RCV000008992
- ClinVar RCV005222674
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- AlphaMissense 0.69
- MetaLR 0.66
- MetaSVM 0.33
- PolyPhen-2 0.40
- SIFT 0.04
- MutPred 0.67
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- 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: Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. (PMID 16321991)