A3T (p.Ala3Thr) variant of NUDT15 (Q9NV35)
A3T (p.Ala3Thr) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD 13-48037753-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.02
- CADD 6.94
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available