K33R (p.Lys33Arg) variant of NUDT15 (Q9NV35)
K33R (p.Lys33Arg) in NUDT15 (Q9NV35) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
K33R (p.Lys33Arg) variant details
- p.Lys33Arg
- gnomAD 13-48037838-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 23.60
- Most common in the Middle Eastern population (allele frequency 0.00022)
- Structural context available
- Literature evidence available