I20T (p.Ile20Thr) variant of NFE2L2 (Q16236)
I20T (p.Ile20Thr) in NFE2L2 (Q16236) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
I20T (p.Ile20Thr) variant details
- p.Ile20Thr
- ExAC rs767333507
- TOPMed rs767333507
- gnomAD rs767333507
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.74
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)