T2S (p.Thr2Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
T2S (p.Thr2Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- gnomAD 17-8003051-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available