E2D (p.Glu2Asp) variant of NR2E3 (Q9Y5X4)
E2D (p.Glu2Asp) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD rs1432485654
- Missense
- Variant Prioritization Score for Impact Estimate 0.0632
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the African/African-American population (allele frequency 0.00031)