A5E (p.Ala5Glu) variant of NUDT15 (Q9NV35)
A5E (p.Ala5Glu) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- gnomAD 13-48037760-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.02
- CADD 9.74
- PolyPhen-2 0.05
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available