L36F (p.Leu36Phe) variant of RPE65 (Retinoid isomerohydrolase)
L36F (p.Leu36Phe) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L36F (p.Leu36Phe) variant details
- p.Leu36Phe
- rs371586530
- ClinGen CA902594
- ClinVar RCV001239945
- ClinVar RCV001834109
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.18
- MetaLR 0.62
- MetaSVM -0.05
- CADD 19.80
- PolyPhen-2 0.12
- SIFT 0.02
- 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 5.9e-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)