G32S (p.Gly32Ser) variant of RPE65 (Retinoid isomerohydrolase)
G32S (p.Gly32Ser) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data and structural context.
G32S (p.Gly32Ser) variant details
- p.Gly32Ser
- ExAC rs768448761
- gnomAD rs768448761
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- REVEL 0.96
- MetaLR 1.00
- MetaSVM 0.89
- CADD 35.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available