G21E (p.Gly21Glu) variant of NR2E3 (Q9Y5X4)
G21E (p.Gly21Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G21E (p.Gly21Glu) variant details
- p.Gly21Glu
- rs1385496653
- ClinGen CA393031609
- ClinVar RCV003321131
- TOPMed rs1385496653
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 7.74
- PolyPhen-2 0.04
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available