S541Y (p.Ser541Tyr) variant of VCP (P55072)
S541Y (p.Ser541Tyr) 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.
S541Y (p.Ser541Tyr) variant details
- p.Ser541Tyr
- rs2490351461
- ClinGen CA373279292
- ClinVar RCV003333710
- 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