L34M (p.Leu34Met) variant of NR2E3 (Q9Y5X4)
L34M (p.Leu34Met) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
L34M (p.Leu34Met) variant details
- p.Leu34Met
- gnomAD 15-71810843-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 21.80
- PolyPhen-2 0.12
- SIFT 0.03
- Population evidence available
- Literature evidence available