R35W (p.Arg35Trp) variant of GUCY2D (Retinal guanylyl cyclase 1)
R35W (p.Arg35Trp) 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 0.13 / 1. The record also includes population frequency data and structural context.
R35W (p.Arg35Trp) variant details
- p.Arg35Trp
- 1000Genomes rs1423033093
- TOPMed rs1423033093
- gnomAD rs1423033093
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 1.69
- PolyPhen-2 0.00
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available