K44I (p.Lys44Ile) variant of NFE2L2 (Q16236)
K44I (p.Lys44Ile) 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 0.50 / 1. The record also includes population frequency data and structural context.
K44I (p.Lys44Ile) variant details
- p.Lys44Ile
- rs1255895060
- ClinGen CA349381452
- ClinVar RCV002303720
- TOPMed rs1255895060
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.41
- CADD 27.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available