R25Q (p.Arg25Gln) variant of VCP (P55072)
R25Q (p.Arg25Gln) in VCP (P55072) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inclusion body myopathy with Paget disease of bone and frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- TOPMed rs1190481931
- Uncertain significance
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.76
- CADD 25.50
- PolyPhen-2 0.87
- SIFT 0.06
- ClinVar: Uncertain significance (Inclusion body myopathy with Paget disease of bone and frontotem)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available