A20S (p.Ala20Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
A20S (p.Ala20Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- Ensembl rs1017601312
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- Structural context available