R191Q (p.Arg191Gln) variant of VCP (P55072)
R191Q (p.Arg191Gln) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R191Q (p.Arg191Gln) variant details
- p.Arg191Gln
- rs121909334
- ClinGen CA254406
- ClinVar RCV000008994
- ClinVar RCV000023064
- Pathogenic/Likely pathogenic
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.82
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.07
- CADD 29.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Pathogenic (in FTDALS6 and IBMPFD1)
- UniProt: Pathogenic (in FTDALS6 and IBMPFD1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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: Exome sequencing reveals VCP mutations as a cause of familial ALS. (PMID 21145000)