R95S (p.Arg95Ser) variant of VCP (P55072)
R95S (p.Arg95Ser) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.67 / 1. The record also includes published literature and structural context.
R95S (p.Arg95Ser) variant details
- p.Arg95Ser
- rs121909332
- ClinGen CA373293362
- ClinVar RCV003813702
- Likely 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: Likely pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Likely pathogenic (in IBMPFD1)
- UniProt: Likely pathogenic (in 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)