T105I (p.Thr105Ile) variant of RPE65 (Retinoid isomerohydrolase)
T105I (p.Thr105Ile) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis 2; Retinitis pigmentosa 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T105I (p.Thr105Ile) variant details
- p.Thr105Ile
- rs1260914084
- ClinGen CA340748252
- ClinVar RCV001591857
- ClinVar RCV002569131
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.94
- MetaLR 0.94
- MetaSVM 1.08
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Leber congenital amaurosis 2; Retinitis pigmentosa 20)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)