T86N (p.Thr86Asn) variant of RPE65 (Retinoid isomerohydrolase)
T86N (p.Thr86Asn) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
T86N (p.Thr86Asn) variant details
- p.Thr86Asn
- rs1645931073
- ClinGen CA340748547
- ClinVar RCV001326816
- ClinVar RCV001760420
- Uncertain significance
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.64
- MetaLR 0.91
- MetaSVM 1.03
- CADD 24.80
- PolyPhen-2 0.52
- SIFT 0.04
- ClinVar: Uncertain significance (RPE65-related recessive retinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)