P12R (p.Pro12Arg) variant of NUDT15 (Q9NV35)
P12R (p.Pro12Arg) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- 1000Genomes rs528005656
- ExAC rs528005656
- TOPMed rs528005656
- gnomAD rs528005656
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.34
- MetaLR 0.37
- MetaSVM -0.01
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available