G157R (p.Gly157Arg) variant of VCP (P55072)
G157R (p.Gly157Arg) 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 0.75 / 1. The record also includes published literature and structural context.
G157R (p.Gly157Arg) variant details
- p.Gly157Arg
- rs1554668814
- ClinGen CA373289608
- ClinVar RCV001972632
- Ensembl rs1554668814
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.10
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Pathogenic
- UniProt: 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)