G13E (p.Gly13Glu) variant of NUDT15 (Q9NV35)
G13E (p.Gly13Glu) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- 1000Genomes rs567318719
- ExAC rs567318719
- TOPMed rs567318719
- gnomAD rs567318719
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.27
- MetaLR 0.15
- MetaSVM -0.98
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the HGDP:BRAHUI population (allele frequency 0.023)
- Structural context available