R362C (p.Arg362Cys) variant of VCP (P55072)
R362C (p.Arg362Cys) 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. The record also includes structural context.
R362C (p.Arg362Cys) variant details
- p.Arg362Cys
- rs2490355959
- ClinGen CA373283807
- ClinVar RCV003333709
- Likely pathogenic
- Childhood Onset VCP-related Neurodevelopmental Disorder
- Missense
- ClinVar: Likely pathogenic (Childhood Onset VCP-related Neurodevelopmental Disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available