P12L (p.Pro12Leu) variant of NUDT15 (Q9NV35)
P12L (p.Pro12Leu) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- 1000Genomes rs528005656
- ExAC rs528005656
- TOPMed rs528005656
- gnomAD rs528005656
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.27
- MetaLR 0.22
- MetaSVM -0.62
- CADD 22.20
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available