K251N (p.Lys251Asn) variant of VCP (P55072)
K251N (p.Lys251Asn) 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.
K251N (p.Lys251Asn) variant details
- p.Lys251Asn
- rs2490360271
- ClinGen CA373286472
- ClinVar RCV003333706
- 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