T105N (p.Thr105Asn) variant of RPE65 (Retinoid isomerohydrolase)
T105N (p.Thr105Asn) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
T105N (p.Thr105Asn) variant details
- p.Thr105Asn
- rs1260914084
- ClinGen CA340748250
- ClinVar RCV001235816
- ClinVar RCV001249891
- Uncertain significance
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- MutPred 0.83
- ClinVar: Uncertain significance (RPE65-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely 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)