Y351C (p.Tyr351Cys) variant of GUCY2D (Retinal guanylyl cyclase 1)
Y351C (p.Tyr351Cys) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Y351C (p.Tyr351Cys) variant details
- p.Tyr351Cys
- rs61749676
- ClinGen CA226036
- ClinVar RCV000084827
- ClinVar RCV001250829
- Likely pathogenic
- GUCY2D-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.45
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Likely pathogenic (GUCY2D-related recessive retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)