C112Y (p.Cys112Tyr) variant of RPE65 (Retinoid isomerohydrolase)
C112Y (p.Cys112Tyr) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
C112Y (p.Cys112Tyr) variant details
- p.Cys112Tyr
- ExAC rs759690120
- gnomAD rs759690120
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.92
- MetaLR 0.93
- MetaSVM 1.03
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available