L408P (p.Leu408Pro) variant of RPE65 (Retinoid isomerohydrolase)
L408P (p.Leu408Pro) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Leber congenital amaurosis 2; Retinitis pigmentosa 20; Leber congenital amaurosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
L408P (p.Leu408Pro) variant details
- p.Leu408Pro
- rs62636298
- ClinGen CA226497
- ClinVar RCV000085159
- ClinVar RCV001041992
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis 2; Retinitis pigmentosa 20; Leber congenital amaurosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.98
- MetaLR 0.94
- MetaSVM 1.10
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis 2; Retinitis pigmentosa 20; Leber con)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson… (PMID 17964524)
- Cited in: Predicting the pathogenicity of RPE65 mutations. (PMID 19431183)