P37Q (p.Pro37Gln) variant of GUCY2D (Retinal guanylyl cyclase 1)
P37Q (p.Pro37Gln) 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 0.16 / 1. The record also includes population frequency data and structural context.
P37Q (p.Pro37Gln) variant details
- p.Pro37Gln
- gnomAD rs1424853491
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.18
- ESM-1b 0.22
- AlphaMissense 0.14
- CADD 0.47
- PolyPhen-2 0.00
- SIFT 0.52
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available