S25P (p.Ser25Pro) variant of GUCY2D (Retinal guanylyl cyclase 1)
S25P (p.Ser25Pro) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S25P (p.Ser25Pro) variant details
- p.Ser25Pro
- gnomAD 17-8003120-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 2.29
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available