P19S (p.Pro19Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
P19S (p.Pro19Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- gnomAD 17-8003102-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available