P12L (p.Pro12Leu) variant of NFE2L2 (Q16236)
P12L (p.Pro12Leu) in NFE2L2 (Q16236) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- ExAC rs771830842
- TOPMed rs771830842
- gnomAD rs771830842
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.04
- CADD 20.10
- PolyPhen-2 0.02
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)