I34F (p.Ile34Phe) variant of RPE65 (Retinoid isomerohydrolase)
I34F (p.Ile34Phe) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
I34F (p.Ile34Phe) variant details
- p.Ile34Phe
- TOPMed rs1398705256
- gnomAD rs1398705256
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.71
- MetaLR 0.80
- MetaSVM 0.51
- CADD 20.50
- SIFT 0.07
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available