P30T (p.Pro30Thr) variant of GUCY2D (Retinal guanylyl cyclase 1)
P30T (p.Pro30Thr) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- gnomAD 17-8003135-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.05
- ESM-1b 0.48
- AlphaMissense 0.11
- CADD 4.93
- PolyPhen-2 0.02
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available