M2L (p.Met2Leu) variant of NFE2L2 (Q16236)
M2L (p.Met2Leu) 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.
M2L (p.Met2Leu) variant details
- p.Met2Leu
- Ensembl rs2105503090
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.19
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available