T2M (p.Thr2Met) variant of NUDT15 (Q9NV35)
T2M (p.Thr2Met) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T2M (p.Thr2Met) variant details
- p.Thr2Met
- ExAC rs749250312
- TOPMed rs749250312
- gnomAD rs749250312
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.02
- CADD 7.38
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the South Asian population (allele frequency 8.7e-05)
- Structural context available