R93C (p.Arg93Cys) variant of VCP (P55072)
R93C (p.Arg93Cys) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R93C (p.Arg93Cys) variant details
- p.Arg93Cys
- rs1554669087
- ClinGen CA373293400
- ClinVar RCV000728008
- ClinVar RCV002233733
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.74
- AlphaMissense 0.97
- MetaLR 0.85
- MetaSVM 0.94
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- 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)