F57S (p.Phe57Ser) variant of RPE65 (Retinoid isomerohydrolase)
F57S (p.Phe57Ser) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinitis pigmentosa 20. The record also includes published literature and structural context.
F57S (p.Phe57Ser) variant details
- p.Phe57Ser
- rs2523451761
- ClinGen CA340749087
- ClinVar RCV002281669
- Pathogenic
- Retinitis pigmentosa 20
- Missense
- ClinVar: Pathogenic (Retinitis pigmentosa 20)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)