A3S (p.Ala3Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
A3S (p.Ala3Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 17-8003054-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 18.30
- PolyPhen-2 0.17
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available