R35Q (p.Arg35Gln) variant of GUCY2D (Retinal guanylyl cyclase 1)
R35Q (p.Arg35Gln) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- ExAC rs748156659
- TOPMed rs748156659
- gnomAD rs748156659
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 11.90
- PolyPhen-2 0.02
- SIFT 0.68
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available