G4V (p.Gly4Val) variant of VCP (P55072)
G4V (p.Gly4Val) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, 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 0.49 / 1. The record also includes population frequency data and structural context.
G4V (p.Gly4Val) variant details
- p.Gly4Val
- ExAC rs767081097
- TOPMed rs767081097
- gnomAD rs767081097
- Uncertain significance
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.33
- CADD 24.70
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Inclusion body myopathy with Paget disease of bone and frontotem)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available