I151M (p.Ile151Met) variant of VCP (P55072)
I151M (p.Ile151Met) 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 0.60 / 1. The record also includes published literature and structural context.
I151M (p.Ile151Met) variant details
- p.Ile151Met
- rs1828808459
- ClinGen CA373289743
- ClinVar RCV001212890
- Ensembl rs1828808459
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.12
- MetaLR 0.81
- MetaSVM 0.50
- PolyPhen-2 0.03
- SIFT 0.13
- MutPred 0.36
- 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)