N91K (p.Asn91Lys) variant of VCP (P55072)
N91K (p.Asn91Lys) 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 0.83 / 1. The record also includes published literature and structural context.
N91K (p.Asn91Lys) variant details
- p.Asn91Lys
- rs1563980966
- ClinGen CA373293471
- ClinVar RCV002015462
- Ensembl rs1563980966
- Likely pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- ClinVar: Likely pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)