K62R (p.Lys62Arg) variant of VCP (P55072)
K62R (p.Lys62Arg) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K62R (p.Lys62Arg) variant details
- p.Lys62Arg
- rs886063892
- ClinGen CA10633918
- ClinVar RCV000351753
- ClinVar RCV000396114
- Uncertain significance
- not provided; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; In
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.48
- CADD 22.90
- PolyPhen-2 0.34
- SIFT 0.25
- 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 3.6e-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)