E27A (p.Glu27Ala) variant of NR2E3 (Q9Y5X4)
E27A (p.Glu27Ala) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E27A (p.Glu27Ala) variant details
- p.Glu27Ala
- gnomAD rs1385045523
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 17.20
- PolyPhen-2 0.09
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available