A946T (p.Ala946Thr) variant of GUCY2D (Retinal guanylyl cyclase 1)
A946T (p.Ala946Thr) 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 0.77 / 1. The record also includes published literature and structural context.
A946T (p.Ala946Thr) variant details
- p.Ala946Thr
- rs1975945845
- ClinGen CA397954531
- NCI-TCGA Cosmic COSV5469
- ClinVar RCV001250848
- Likely pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.74
- MetaSVM 0.60
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (GUCY2D-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)