A3G (p.Ala3Gly) variant of NUDT15 (Q9NV35)
A3G (p.Ala3Gly) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- ExAC rs768620317
- TOPMed rs768620317
- gnomAD rs768620317
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.02
- MetaLR 0.07
- MetaSVM -0.99
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available