R31K (p.Arg31Lys) variant of NR2E3 (Q9Y5X4)
R31K (p.Arg31Lys) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R31K (p.Arg31Lys) variant details
- p.Arg31Lys
- gnomAD 15-71810835-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available