G9R (p.Gly9Arg) variant of NUDT15 (Q9NV35)
G9R (p.Gly9Arg) in NUDT15 (Q9NV35) 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 0.09 / 1. The record also includes population frequency data and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- ExAC rs759619545
- TOPMed rs759619545
- gnomAD rs759619545
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0867
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -0.95
- CADD 4.94
- PolyPhen-2 0.00
- SIFT 0.71
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available