L34Q (p.Leu34Gln) variant of NR2E3 (Q9Y5X4)
L34Q (p.Leu34Gln) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
L34Q (p.Leu34Gln) variant details
- p.Leu34Gln
- gnomAD 15-71810844-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Literature evidence available