L6M (p.Leu6Met) variant of NFE2L2 (Q16236)
L6M (p.Leu6Met) in NFE2L2 (Q16236) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- ExAC rs762231388
- gnomAD rs762231388
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.14
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)