P30H (p.Pro30His) variant of GUCY2D (Retinal guanylyl cyclase 1)
P30H (p.Pro30His) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P30H (p.Pro30His) variant details
- p.Pro30His
- gnomAD 17-8003136-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.21
- ESM-1b 0.53
- AlphaMissense 0.13
- CADD 10.80
- PolyPhen-2 0.20
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available