L30I (p.Leu30Ile) variant of NUDT15 (Q9NV35)
L30I (p.Leu30Ile) 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.
L30I (p.Leu30Ile) variant details
- p.Leu30Ile
- gnomAD 13-48037834-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.25
- MetaLR 0.25
- MetaSVM -0.57
- CADD 24.00
- PolyPhen-2 0.94
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available