L31P (p.Leu31Pro) variant of NUDT15 (Q9NV35)
L31P (p.Leu31Pro) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- gnomAD 13-48037838-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.53
- MetaLR 0.33
- MetaSVM -0.00
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00022)
- Structural context available
- Literature evidence available