S54C (p.Ser54Cys) variant of RPE65 (Retinoid isomerohydrolase)
S54C (p.Ser54Cys) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S54C (p.Ser54Cys) variant details
- p.Ser54Cys
- TOPMed rs1268808384
- gnomAD rs1268808384
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.52
- MetaLR 0.80
- MetaSVM 0.77
- CADD 25.40
- PolyPhen-2 0.47
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available