P12S (p.Pro12Ser) variant of NUDT15 (Q9NV35)
P12S (p.Pro12Ser) 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.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- gnomAD 13-48037780-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.34
- MetaLR 0.40
- MetaSVM 0.07
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available