E2G (p.Glu2Gly) variant of NR2E3 (Q9Y5X4)
E2G (p.Glu2Gly) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- rs2543251941
- ClinGen CA393031334
- ClinVar RCV003850818
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance