P18L (p.Pro18Leu) variant of NR2E3 (Q9Y5X4)
P18L (p.Pro18Leu) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- ExAC rs778754527
- gnomAD rs778754527
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 20.20
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available