R31G (p.Arg31Gly) variant of GUCY2D (Retinal guanylyl cyclase 1)
R31G (p.Arg31Gly) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- rs1285350603
- ClinGen CA397942688
- ClinVar RCV002949407
- TOPMed rs1285350603
- Uncertain significance
- Leber congenital amaurosis 1; Cone-rod dystrophy 6; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 3.04
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Leber congenital amaurosis 1; Cone-rod dystrophy 6; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)