R42G (p.Arg42Gly) variant of NFE2L2 (Q16236)
R42G (p.Arg42Gly) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R42G (p.Arg42Gly) variant details
- p.Arg42Gly
- ExAC rs769685782
- TOPMed rs769685782
- gnomAD rs769685782
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 3.10
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- UniProt: Conflicting interpretations
- Most common in the Latino/Admixed American population (allele frequency 0.00014)
- Structural context available