C28R (p.Cys28Arg) variant of NUDT15 (Q9NV35)
C28R (p.Cys28Arg) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
C28R (p.Cys28Arg) variant details
- p.Cys28Arg
- gnomAD 13-48037828-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.25
- MetaLR 0.02
- MetaSVM -0.98
- CADD 26.00
- PolyPhen-2 0.60
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available