R113H (p.Arg113His) variant of VCP (P55072)
R113H (p.Arg113His) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; In. The record also includes published literature and structural context.
R113H (p.Arg113His) variant details
- p.Arg113His
- rs2490370479
- ClinGen CA373292435
- ClinVar RCV002283218
- ClinVar RCV006558749
- Uncertain significance
- not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; In
- Missense
- ClinVar: Uncertain significance (not provided; Frontotemporal dementia and/or amyotrophic lateral)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)