G17E (p.Gly17Glu) variant of NUDT15 (Q9NV35)
G17E (p.Gly17Glu) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- gnomAD 13-48037796-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.37
- MetaLR 0.12
- MetaSVM -0.92
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available