R191P (p.Arg191Pro) variant of VCP (P55072)
R191P (p.Arg191Pro) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.74 / 1. The record also includes published literature and structural context.
R191P (p.Arg191Pro) variant details
- p.Arg191Pro
- rs121909334
- ClinGen CA373288667
- ClinVar RCV001095426
- ClinVar RCV003769035
- Pathogenic/Likely pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.09
- ClinVar: Pathogenic/Likely pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Pathogenic (in FTDALS6 and IBMPFD1)
- UniProt: Pathogenic (in FTDALS6 and IBMPFD1)
- 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)