M1I (p.Met1Ile) variant of RPE65 (Retinoid isomerohydrolase)
M1I (p.Met1Ile) 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 Retinitis pigmentosa 20; Leber congenital amaurosis 2; Leber congenital amaurosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1357241537
- ClinGen CA340750383
- ClinVar RCV001379122
- ClinVar RCV004801002
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 20; Leber congenital amaurosis 2; Leber congenital amaurosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 20; Leber congenital amaurosis 2; Leber con)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)