R11Q (p.Arg11Gln) variant of NUDT15 (Q9NV35)
R11Q (p.Arg11Gln) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- ExAC rs764632714
- TOPMed rs764632714
- gnomAD rs764632714
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.29
- MetaLR 0.04
- MetaSVM -1.09
- CADD 22.90
- PolyPhen-2 0.20
- SIFT 0.05
- Most common in the East Asian population (allele frequency 7.7e-05)
- Structural context available