I115T (p.Ile115Thr) variant of RPE65 (Retinoid isomerohydrolase)
I115T (p.Ile115Thr) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Leber congenital amaurosis 2; Retinitis pigmentosa 20; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
I115T (p.Ile115Thr) variant details
- p.Ile115Thr
- rs1645929674
- ClinGen CA340748119
- ClinVar RCV001377673
- ClinVar RCV003469629
- Conflicting interpretations
- Leber congenital amaurosis 2; Retinitis pigmentosa 20; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.94
- MetaLR 0.91
- MetaSVM 1.00
- CADD 26.50
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Leber congenital amaurosis 2; Retinitis pigmentosa 20; not speci)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)