R25W (p.Arg25Trp) variant of VCP (P55072)
R25W (p.Arg25Trp) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- rs920962883
- ClinGen CA192683344
- ClinVar RCV001962627
- ClinVar RCV003136340
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body m
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.91
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)