G9W (p.Gly9Trp) variant of NUDT15 (Q9NV35)
G9W (p.Gly9Trp) in NUDT15 (Q9NV35) 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 0.13 / 1. The record also includes population frequency data and structural context.
G9W (p.Gly9Trp) variant details
- p.Gly9Trp
- ExAC rs759619545
- TOPMed rs759619545
- gnomAD rs759619545
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -0.99
- CADD 15.20
- PolyPhen-2 0.30
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available