T280R (p.Thr280Arg) variant of GUCY2D (Retinal guanylyl cyclase 1)
T280R (p.Thr280Arg) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GUCY2D-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
T280R (p.Thr280Arg) variant details
- p.Thr280Arg
- rs868557040
- ClinGen CA287523615
- ClinVar RCV000996480
- ClinVar RCV005053962
- Likely pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.69
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available