G30D (p.Gly30Asp) variant of NR2E3 (Q9Y5X4)
G30D (p.Gly30Asp) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- gnomAD 15-71810832-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 21.30
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available