P18R (p.Pro18Arg) variant of NR2E3 (Q9Y5X4)
P18R (p.Pro18Arg) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- ExAC rs778754527
- gnomAD rs778754527
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 19.90
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available