R11L (p.Arg11Leu) variant of NUDT15 (Q9NV35)
R11L (p.Arg11Leu) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- gnomAD 13-48037778-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.36
- MetaLR 0.12
- MetaSVM -0.93
- CADD 26.20
- PolyPhen-2 0.89
- SIFT 0.03
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available