R28H (p.Arg28His) variant of GUCY2D (Retinal guanylyl cyclase 1)
R28H (p.Arg28His) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R28H (p.Arg28His) variant details
- p.Arg28His
- gnomAD 17-8003130-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available