P27S (p.Pro27Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
P27S (p.Pro27Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- gnomAD 17-8003126-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 7.42
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available