R34T (p.Arg34Thr) variant of NUDT15 (Q9NV35)
R34T (p.Arg34Thr) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R34T (p.Arg34Thr) variant details
- p.Arg34Thr
- ExAC rs766023281
- TOPMed rs766023281
- gnomAD rs766023281
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.65
- MetaLR 0.21
- MetaSVM -0.54
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available