C105R (p.Cys105Arg) variant of VCP (P55072)
C105R (p.Cys105Arg) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.61 / 1. The record also includes published literature and structural context.
C105R (p.Cys105Arg) variant details
- p.Cys105Arg
- rs1828842736
- ClinGen CA373292734
- ClinVar RCV001234395
- Ensembl rs1828842736
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- AlphaMissense 0.96
- MetaLR 0.68
- MetaSVM 0.60
- PolyPhen-2 0.93
- SIFT 0.01
- EVE 0.13
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- 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)