P111T (p.Pro111Thr) variant of RPE65 (Retinoid isomerohydrolase)
P111T (p.Pro111Thr) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
P111T (p.Pro111Thr) variant details
- p.Pro111Thr
- rs886042220
- ClinGen CA340748185
- ClinVar RCV001074561
- ClinVar RCV003768999
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- MutPred 0.84
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available