G15R (p.Gly15Arg) variant of GUCY2D (Retinal guanylyl cyclase 1)
G15R (p.Gly15Arg) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis 1; Cone-rod dystrophy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- TOPMed rs954746846
- gnomAD rs954746846
- Uncertain significance
- Leber congenital amaurosis 1; Cone-rod dystrophy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 1.10
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (Leber congenital amaurosis 1; Cone-rod dystrophy 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available