S117F (p.Ser117Phe) variant of RPE65 (Retinoid isomerohydrolase)
S117F (p.Ser117Phe) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 20. The record also includes variant effect predictions, published literature, and structural context.
S117F (p.Ser117Phe) variant details
- p.Ser117Phe
- rs2100828189
- ClinGen CA340748086
- ClinVar RCV001376366
- Ensembl rs2100828189
- Uncertain significance
- Retinitis pigmentosa 20
- Missense
- MutPred 0.69
- ClinVar: Uncertain significance (Retinitis pigmentosa 20)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)