Q4H (p.Gln4His) variant of RPE65 (Retinoid isomerohydrolase)
Q4H (p.Gln4His) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and structural context.
Q4H (p.Gln4His) variant details
- p.Gln4His
- rs1645960147
- ClinGen CA340750353
- ClinVar RCV001090222
- Ensembl rs1645960147
- Uncertain significance
- not provided
- Missense
- MutPred 0.54
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available