T2R (p.Thr2Arg) variant of NUDT15 (Q9NV35)
T2R (p.Thr2Arg) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
T2R (p.Thr2Arg) variant details
- p.Thr2Arg
- ExAC rs749250312
- TOPMed rs749250312
- gnomAD rs749250312
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.03
- CADD 7.29
- PolyPhen-2 0.03
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available