L60P (p.Leu60Pro) variant of RPE65 (Retinoid isomerohydrolase)
L60P (p.Leu60Pro) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leber congenital amaurosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L60P (p.Leu60Pro) variant details
- p.Leu60Pro
- rs1266217912
- UniProt VAR 071672
- gnomAD rs1266217912
- Pathogenic
- Leber congenital amaurosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.87
- MetaLR 0.89
- MetaSVM 0.89
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Leber congenital amaurosis)
- EBI: Pathogenic (in RP20)
- UniProt: Pathogenic (in RP20)
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available
- Cited in: Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. (PMID 23878505)
- Cited in: Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. (PMID 11095629)