L34L (p.Leu34Leu) variant of NR2E3 (Q9Y5X4)
L34L (p.Leu34Leu) in NR2E3 (Q9Y5X4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
L34L (p.Leu34Leu) variant details
- p.Leu34Leu
- gnomAD 15-71810845-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 6.59
- Population evidence available
- Literature evidence available