D98E (p.Asp98Glu) variant of VCP (P55072)
D98E (p.Asp98Glu) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inclusion body myopathy with Paget disease of bone and frontotemporal dementia t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
D98E (p.Asp98Glu) variant details
- p.Asp98Glu
- rs1828864269
- ClinGen CA373293267
- ClinVar RCV001253196
- Ensembl rs1828864269
- Likely pathogenic
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia t
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- AlphaMissense 0.89
- MetaLR 0.78
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.10
- ClinVar: Likely pathogenic (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia. (PMID 20301649)