L22P (p.Leu22Pro) variant of RPE65 (Retinoid isomerohydrolase)
L22P (p.Leu22Pro) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- rs61751277
- ClinGen CA226576
- ClinVar RCV000085218
- ClinVar RCV001218527
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.71
- MetaLR 0.76
- MetaSVM 0.47
- CADD 23.20
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID 17724218)
- Cited in: Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene. (PMID 9801879)