G13A (p.Gly13Ala) variant of NUDT15 (Q9NV35)
G13A (p.Gly13Ala) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- 1000Genomes rs567318719
- ExAC rs567318719
- TOPMed rs567318719
- gnomAD rs567318719
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.25
- MetaLR 0.12
- MetaSVM -1.07
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available