L30I (p.Leu30Ile) variant of NFE2L2 (Q16236)
L30I (p.Leu30Ile) in NFE2L2 (Q16236) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
L30I (p.Leu30Ile) variant details
- p.Leu30Ile
- TOPMed rs1689663660
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.32
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available