L4F (p.Leu4Phe) variant of NFE2L2 (Q16236)
L4F (p.Leu4Phe) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- rs1308981355
- ClinGen CA349389815
- ClinVar RCV001895379
- TOPMed rs1308981355
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.06
- CADD 23.00
- PolyPhen-2 0.38
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available