I3N (p.Ile3Asn) variant of RPE65 (Retinoid isomerohydrolase)
I3N (p.Ile3Asn) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I3N (p.Ile3Asn) variant details
- p.Ile3Asn
- 1000Genomes rs534901182
- ExAC rs534901182
- TOPMed rs534901182
- gnomAD rs534901182
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.29
- MetaLR 0.26
- MetaSVM -0.68
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available