P12Q (p.Pro12Gln) variant of NFE2L2 (Q16236)
P12Q (p.Pro12Gln) in NFE2L2 (Q16236) 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.
P12Q (p.Pro12Gln) variant details
- p.Pro12Gln
- ExAC rs771830842
- TOPMed rs771830842
- gnomAD rs771830842
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.07
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.83
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)