G19R (p.Gly19Arg) variant of SUFU (Suppressor of fused homolog)
G19R (p.Gly19Arg) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- TOPMed rs1207697890
- gnomAD rs1207697890
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.13
- CADD 22.20
- PolyPhen-2 0.15
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available