L33Q (p.Leu33Gln) variant of GUCY2D (Retinal guanylyl cyclase 1)
L33Q (p.Leu33Gln) 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 Inborn genetic diseases; Cone-rod dystrophy 6; Leber congenital amaurosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L33Q (p.Leu33Gln) variant details
- p.Leu33Gln
- rs755150485
- ClinGen CA8365469
- ClinVar RCV001327133
- ClinVar RCV002546213
- Uncertain significance
- Inborn genetic diseases; Cone-rod dystrophy 6; Leber congenital amaurosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.30
- MetaSVM -0.88
- CADD 4.45
- ClinVar: Uncertain significance (Inborn genetic diseases; Cone-rod dystrophy 6; Leber congenital)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-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)