R65Q (p.Arg65Gln) variant of VCP (P55072)
R65Q (p.Arg65Gln) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; In. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- rs2490373887
- ClinGen CA373294172
- ClinVar RCV003028220
- ClinVar RCV003138441
- Uncertain significance
- not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; In
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.56
- AlphaMissense 0.42
- MetaLR 0.56
- MetaSVM -0.20
- CADD 23.30
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided; Frontotemporal dementia and/or amyotrophic lateral)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)