L42F (p.Leu42Phe) variant of RPE65 (Retinoid isomerohydrolase)
L42F (p.Leu42Phe) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- rs750724065
- ClinGen CA902590
- NCI-TCGA Cosmic COSV5201
- ClinVar RCV001243775
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.88
- MetaLR 0.92
- MetaSVM 0.93
- CADD 24.20
- PolyPhen-2 0.91
- SIFT 0.22
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00041)
- 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)