L34P (p.Leu34Pro) variant of NR2E3 (Q9Y5X4)
L34P (p.Leu34Pro) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
L34P (p.Leu34Pro) variant details
- p.Leu34Pro
- gnomAD 15-71810844-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the East Asian population (allele frequency 0.00015)
- Literature evidence available