P7L (p.Pro7Leu) variant of NFE2L2 (Q16236)
P7L (p.Pro7Leu) in NFE2L2 (Q16236) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- gnomAD rs1423095854
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.18
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.54
- Most common in the South Asian population (allele frequency 2.6e-05)