D79E (p.Asp79Glu) variant of VCP (P55072)
D79E (p.Asp79Glu) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D79E (p.Asp79Glu) variant details
- p.Asp79Glu
- rs746810092
- ClinGen CA5039528
- ClinVar RCV001313680
- ClinVar RCV003222301
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.34
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)