E185D (p.Glu185Asp) variant of VCP (P55072)
E185D (p.Glu185Asp) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inclusion body myopathy with Paget disease of bone and frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E185D (p.Glu185Asp) variant details
- p.Glu185Asp
- rs1333833979
- ClinGen CA373288786
- ClinVar RCV000730388
- ClinVar RCV005223150
- Uncertain significance
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.51
- CADD 17.50
- PolyPhen-2 0.02
- SIFT 0.21
- ClinVar: Uncertain significance (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Likely benign (in CMT2Y)
- UniProt: Likely benign (in CMT2Y)
- Most common in the South Asian population (allele frequency 0.00021)
- 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)