R42* (p.Arg42Ter) variant of NFE2L2 (Q16236)
R42* (p.Arg42Ter) in NFE2L2 (Q16236) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R42* (p.Arg42Ter) variant details
- p.Arg42Ter
- ExAC rs769685782
- TOPMed rs769685782
- gnomAD rs769685782
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 37.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available