E27G (p.Glu27Gly) variant of NR2E3 (Q9Y5X4)
E27G (p.Glu27Gly) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- gnomAD 15-71810823-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available