I126F (p.Ile126Phe) variant of VCP (P55072)
I126F (p.Ile126Phe) in VCP (P55072) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in IBMPFD1. The record also includes published literature and structural context.
I126F (p.Ile126Phe) variant details
- p.Ile126Phe
- UniProt VAR 076465
- Uncertain significance
- in IBMPFD1
- Missense
- EBI: Variant of uncertain significance (in IBMPFD1)
- UniProt: Uncertain significance (in IBMPFD1)
- Structural context available
- Cited in: Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy… (PMID 27209344)
- Cited in: Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant… (PMID 15034582)