P18H (p.Pro18His) variant of NR2E3 (Q9Y5X4)
P18H (p.Pro18His) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P18H (p.Pro18His) variant details
- p.Pro18His
- cosmic curated COSV58907
- ExAC rs778754527
- gnomAD rs778754527
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 22.60
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available