R256G (p.Arg256Gly) variant of VCP (P55072)
R256G (p.Arg256Gly) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Childhood Onset VCP-related Neurodevelopmental Disorder; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R256G (p.Arg256Gly) variant details
- p.Arg256Gly
- rs2490360233
- ClinGen CA373286437
- ClinVar RCV003333707
- ClinVar RCV003883215
- Likely pathogenic
- Childhood Onset VCP-related Neurodevelopmental Disorder; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.89
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Childhood Onset VCP-related Neurodevelopmental Disorder; Frontot)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-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)