E5V (p.Glu5Val) variant of NFE2L2 (Q16236)
E5V (p.Glu5Val) in NFE2L2 (Q16236) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
E5V (p.Glu5Val) variant details
- p.Glu5Val
- Ensembl rs754133211
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.07
- CADD 24.90
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)