R159G (p.Arg159Gly) variant of VCP (P55072)
R159G (p.Arg159Gly) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.77 / 1. The record also includes published literature and structural context.
R159G (p.Arg159Gly) variant details
- p.Arg159Gly
- rs387906789
- ClinGen CA259748
- ClinVar RCV000023065
- UniProt VAR 065910
- Pathogenic
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.17
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6)
- EBI: Pathogenic (in FTDALS6)
- UniProt: Pathogenic (in FTDALS6)
- Structural context available
- Cited in: Exome sequencing reveals VCP mutations as a cause of familial ALS. (PMID 21145000)
- Cited in: A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular… (PMID 23349634)