A145P (p.Ala145Pro) variant of RPE65 (Retinoid isomerohydrolase)
A145P (p.Ala145Pro) 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 record also includes variant effect predictions, published literature, and structural context.
A145P (p.Ala145Pro) variant details
- p.Ala145Pro
- rs767528365
- ClinGen CA340747763
- ClinVar RCV000678616
- ClinVar RCV003768029
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- MutPred 0.66
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cone rod dystrophies. (PMID 17270046)