R31Q (p.Arg31Gln) variant of GUCY2D (Retinal guanylyl cyclase 1)
R31Q (p.Arg31Gln) 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 Cone-rod dystrophy 6; Leber congenital amaurosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- rs1484916911
- ClinGen CA397942692
- ClinVar RCV002629301
- TOPMed rs1484916911
- Uncertain significance
- Cone-rod dystrophy 6; Leber congenital amaurosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 6.49
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Cone-rod dystrophy 6; Leber congenital amaurosis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)