R95H (p.Arg95His) variant of VCP (P55072)
R95H (p.Arg95His) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R95H (p.Arg95His) variant details
- p.Arg95His
- rs758169026
- ClinGen CA5039526
- ClinVar RCV002018336
- ExAC rs758169026
- Likely pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.46
- AlphaMissense 0.30
- MetaLR 0.52
- MetaSVM -0.21
- CADD 22.80
- PolyPhen-2 0.11
- ClinVar: Likely pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Likely pathogenic (in IBMPFD1)
- UniProt: Likely pathogenic (in IBMPFD1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- 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)