F530L (p.Phe530Leu) variant of RPE65 (Retinoid isomerohydrolase)
F530L (p.Phe530Leu) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
F530L (p.Phe530Leu) variant details
- p.Phe530Leu
- rs2100804954
- ClinGen CA340740550
- ClinVar RCV001963988
- ClinVar RCV003471217
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.89
- MetaLR 0.93
- MetaSVM 1.05
- CADD 26.30
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)