I34T (p.Ile34Thr) variant of RPE65 (Retinoid isomerohydrolase)
I34T (p.Ile34Thr) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 20; Leber congenital amaurosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
I34T (p.Ile34Thr) variant details
- p.Ile34Thr
- rs748456353
- ClinGen CA902596
- ClinVar RCV003091163
- ExAC rs748456353
- Uncertain significance
- Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.95
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Retinitis pigmentosa 20; Leber congenital amaurosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)