A5S (p.Ala5Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
A5S (p.Ala5Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD 17-8003060-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available