R34K (p.Arg34Lys) variant of NUDT15 (Q9NV35)
R34K (p.Arg34Lys) 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.
R34K (p.Arg34Lys) variant details
- p.Arg34Lys
- ExAC rs766023281
- TOPMed rs766023281
- gnomAD rs766023281
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.26
- MetaLR 0.11
- MetaSVM -0.94
- CADD 25.50
- PolyPhen-2 0.58
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available