G128S (p.Gly128Ser) variant of VCP (P55072)
G128S (p.Gly128Ser) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inclusion body myopathy with Paget disease of bone and frontotemporal dementia. The record also includes published literature and structural context.
G128S (p.Gly128Ser) variant details
- p.Gly128Ser
- rs2490370338
- ClinGen CA373291998
- ClinVar RCV002876342
- Likely pathogenic
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- ClinVar: Likely pathogenic (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)