P34H (p.Pro34His) variant of GUCY2D (Retinal guanylyl cyclase 1)
P34H (p.Pro34His) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P34H (p.Pro34His) variant details
- p.Pro34His
- ExAC rs781514479
- TOPMed rs781514479
- gnomAD rs781514479
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.15
- ESM-1b 0.91
- AlphaMissense 0.14
- CADD 11.90
- PolyPhen-2 0.17
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available