E102K (p.Glu102Lys) variant of RPE65 (Retinoid isomerohydrolase)
E102K (p.Glu102Lys) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 w. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
E102K (p.Glu102Lys) variant details
- p.Glu102Lys
- rs62642584
- ClinGen CA226539
- ClinVar RCV000085191
- ClinVar RCV005031580
- Likely pathogenic
- Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 w
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- MutPred 0.91
- ClinVar: Likely pathogenic (Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis)
- EBI: Pathogenic (in RP20 and LCA2)
- UniProt: Pathogenic (in RP20 and LCA2)
- Structural context available
- Cited in: Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID 17724218)
- Cited in: Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. (PMID 9501220)