E27E (p.Glu27Glu) variant of NR2E3 (Q9Y5X4)
E27E (p.Glu27Glu) in NR2E3 (Q9Y5X4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E27E (p.Glu27Glu) variant details
- p.Glu27Glu
- rs770924023
- gnomAD 15-71810824-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 6.26
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available