K33E (p.Lys33Glu) variant of NUDT15 (Q9NV35)
K33E (p.Lys33Glu) in NUDT15 (Q9NV35) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
K33E (p.Lys33Glu) variant details
- p.Lys33Glu
- rs768057637
- ExAC rs768057637
- TOPMed rs768057637
- gnomAD rs768057637
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.34
- MetaLR 0.07
- MetaSVM -1.16
- CADD 27.40
- PolyPhen-2 0.93
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available