A5G (p.Ala5Gly) variant of NUDT15 (Q9NV35)
A5G (p.Ala5Gly) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- ExAC rs761635179
- TOPMed rs761635179
- gnomAD rs761635179
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.02
- CADD 9.25
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available