A3T (p.Ala3Thr) variant of GUCY2D (Retinal guanylyl cyclase 1)
A3T (p.Ala3Thr) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD 17-8003054-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 19.00
- PolyPhen-2 0.06
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available