S40I (p.Ser40Ile) variant of NFE2L2 (Q16236)
S40I (p.Ser40Ile) in NFE2L2 (Q16236) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S40I (p.Ser40Ile) variant details
- p.Ser40Ile
- Ensembl rs1689662982
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.14
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available