L31Q (p.Leu31Gln) variant of NUDT15 (Q9NV35)
L31Q (p.Leu31Gln) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L31Q (p.Leu31Gln) variant details
- p.Leu31Gln
- gnomAD 13-48037838-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.53
- MetaLR 0.27
- MetaSVM -0.32
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available