F103S (p.Phe103Ser) variant of RPE65 (Retinoid isomerohydrolase)
F103S (p.Phe103Ser) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis 2; Retinitis pigmentosa 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
F103S (p.Phe103Ser) variant details
- p.Phe103Ser
- rs1645930469
- ClinGen CA340748279
- ClinVar RCV001246228
- Ensembl rs1645930469
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.97
- MetaLR 0.92
- MetaSVM 1.06
- CADD 28.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Leber congenital amaurosis 2; Retinitis pigmentosa 20)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Autosomal Recessive RPE65-Related Retinal Degeneration. (PMID 31725251)