R42K (p.Arg42Lys) variant of NFE2L2 (Q16236)
R42K (p.Arg42Lys) in NFE2L2 (Q16236) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R42K (p.Arg42Lys) variant details
- p.Arg42Lys
- rs1425696891
- gnomAD 2-177227925-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 1.44
- Population evidence available
- Structural context available
- Literature evidence available