P12T (p.Pro12Thr) variant of NUDT15 (Q9NV35)
P12T (p.Pro12Thr) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- gnomAD 13-48037780-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.36
- MetaLR 0.36
- MetaSVM -0.09
- CADD 23.80
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available