R31W (p.Arg31Trp) variant of GUCY2D (Retinal guanylyl cyclase 1)
R31W (p.Arg31Trp) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R31W (p.Arg31Trp) variant details
- p.Arg31Trp
- TOPMed rs1285350603
- gnomAD rs1285350603
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 7.79
- PolyPhen-2 0.00
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available