T2I (p.Thr2Ile) variant of GUCY2D (Retinal guanylyl cyclase 1)
T2I (p.Thr2Ile) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T2I (p.Thr2Ile) variant details
- p.Thr2Ile
- gnomAD 17-8003052-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.16
- ESM-1b 0.47
- AlphaMissense 0.26
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available