Q19R (p.Gln19Arg) variant of VCP (P55072)
Q19R (p.Gln19Arg) in VCP (P55072) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q19R (p.Gln19Arg) variant details
- p.Gln19Arg
- rs553273871
- ClinGen CA5039560
- ClinVar RCV003139270
- 1000Genomes rs553273871
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.33
- AlphaMissense 0.07
- MetaLR 0.58
- MetaSVM -0.10
- CADD 20.30
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available