D482N (p.Asp482Asn) variant of RPE65 (Retinoid isomerohydrolase)
D482N (p.Asp482Asn) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
D482N (p.Asp482Asn) variant details
- p.Asp482Asn
- rs2100806802
- ClinGen CA340741708
- ClinVar RCV004527499
- ClinVar RCV005241008
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.89
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available