I28L (p.Ile28Leu) variant of NFE2L2 (Q16236)
I28L (p.Ile28Leu) in NFE2L2 (Q16236) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
I28L (p.Ile28Leu) variant details
- p.Ile28Leu
- gnomAD rs1441199966
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.27
- CADD 24.90
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)