N91Y (p.Asn91Tyr) variant of VCP (P55072)
N91Y (p.Asn91Tyr) 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 0.89 / 1. The record also includes published literature and structural context.
N91Y (p.Asn91Tyr) variant details
- p.Asn91Tyr
- rs863225291
- ClinGen CA279635
- ClinVar RCV000201935
- ClinVar RCV001271081
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.97
- MetaLR 0.86
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.77
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy… (PMID 27538664)
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)