R93H (p.Arg93His) variant of VCP (P55072)
R93H (p.Arg93His) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; In. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R93H (p.Arg93His) variant details
- p.Arg93His
- rs779959657
- ClinGen CA5039527
- ClinVar RCV000520021
- ClinVar RCV002231635
- Conflicting interpretations
- not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; In
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.88
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not provided; Frontotemporal dementia and/or amyotrophic lateral)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)