R4G (p.Arg4Gly) variant of NR2E3 (Q9Y5X4)
R4G (p.Arg4Gly) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- gnomAD 15-71810753-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0745
- CADD 3.32
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available