L4V (p.Leu4Val) variant of NFE2L2 (Q16236)
L4V (p.Leu4Val) in NFE2L2 (Q16236) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- TOPMed rs1391889890
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0988
- REVEL 0.04
- CADD 16.70
- PolyPhen-2 0.06
- SIFT 0.15
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available