A32S (p.Ala32Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
A32S (p.Ala32Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- gnomAD 17-8003141-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.05
- PolyPhen-2 0.01
- SIFT 0.75
- Population evidence available
- Structural context available
- Literature evidence available