Y89F (p.Tyr89Phe) variant of RPE65 (Retinoid isomerohydrolase)
Y89F (p.Tyr89Phe) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Y89F (p.Tyr89Phe) variant details
- p.Tyr89Phe
- gnomAD rs1309759632
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.67
- MetaLR 0.84
- MetaSVM -0.07
- CADD 23.90
- PolyPhen-2 0.41
- SIFT 0.25
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available