G33R (p.Gly33Arg) variant of NR2E3 (Q9Y5X4)
G33R (p.Gly33Arg) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- gnomAD 15-71810840-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 24.30
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available