D3N (p.Asp3Asn) variant of NFE2L2 (Q16236)
D3N (p.Asp3Asn) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- rs1690868838
- ClinGen CA349389858
- ClinVar RCV001961536
- TOPMed rs1690868838
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.10
- CADD 23.90
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available