N90D (p.Asn90Asp) variant of VCP (P55072)
N90D (p.Asn90Asp) 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 0.53 / 1. The record also includes published literature and structural context.
N90D (p.Asn90Asp) variant details
- p.Asn90Asp
- rs1828865209
- ClinGen CA373293547
- ClinVar RCV001325031
- Ensembl rs1828865209
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 0.52
- MetaLR 0.54
- MetaSVM -0.06
- PolyPhen-2 0.17
- SIFT 0.20
- MutPred 0.46
- 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)