C17R (p.Cys17Arg) variant of GUCY2D (Retinal guanylyl cyclase 1)
C17R (p.Cys17Arg) 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 Night blindness, congenital stationary, type1i; Choroidal dystrophy, central are. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
C17R (p.Cys17Arg) variant details
- p.Cys17Arg
- rs1008930073
- ClinGen CA287522837
- ClinVar RCV001201774
- ClinVar RCV002484079
- Uncertain significance
- Night blindness, congenital stationary, type1i; Choroidal dystrophy, central are
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 9.04
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Night blindness, congenital stationary, type1i; Choroidal dystro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)