L19F (p.Leu19Phe) variant of NFE2L2 (Q16236)
L19F (p.Leu19Phe) in NFE2L2 (Q16236) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- NCI-TCGA TCGA novel
- gnomAD rs1689665249
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.32
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)