P188H (p.Pro188His) variant of VCP (P55072)
P188H (p.Pro188His) in VCP (P55072) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Inclusion body myopathy with Paget disease of bone and frontotemporal dementia t. The record also includes structural context.
P188H (p.Pro188His) variant details
- p.Pro188His
- gnomAD rs1410410076
- Likely pathogenic
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia t
- Missense
- ClinVar: Likely pathogenic (Inclusion body myopathy with Paget disease of bone and frontotem)
- UniProt: Likely pathogenic
- Structural context available