G97E (p.Gly97Glu) variant of VCP (P55072)
G97E (p.Gly97Glu) 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 0.73 / 1. The record also includes published literature and structural context.
G97E (p.Gly97Glu) variant details
- p.Gly97Glu
- rs864309502
- ClinGen CA213389
- ClinVar RCV000202492
- ClinVar RCV001853259
- Pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- AlphaMissense 0.97
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.13
- ClinVar: Pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Pathogenic (in CMT2Y)
- UniProt: Pathogenic (in CMT2Y)
- Structural context available
- Cited in: Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. (PMID 25878907)
- Cited in: A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. (PMID 25125609)