T2A (p.Thr2Ala) variant of NUDT15 (Q9NV35)
T2A (p.Thr2Ala) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- ExAC rs780144127
- TOPMed rs780144127
- gnomAD rs780144127
- Missense
- Variant Prioritization Score for Impact Estimate 0.0766
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.04
- CADD 3.22
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available