E35K (p.Glu35Lys) variant of NFE2L2 (Q16236)
E35K (p.Glu35Lys) in NFE2L2 (Q16236) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- cosmic curated COSV10606
- ExAC rs773182418
- gnomAD rs773182418
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.35
- CADD 26.40
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available