R53Q (p.Arg53Gln) variant of VCP (P55072)
R53Q (p.Arg53Gln) in VCP (P55072) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R53Q (p.Arg53Gln) variant details
- p.Arg53Gln
- gnomAD rs1170154132
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.78
- CADD 24.90
- PolyPhen-2 0.74
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available