R6H (p.Arg6His) variant of GUCY2D (Retinal guanylyl cyclase 1)
R6H (p.Arg6His) 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.
R6H (p.Arg6His) variant details
- p.Arg6His
- gnomAD 17-8003064-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.21
- ESM-1b 0.03
- AlphaMissense 0.16
- CADD 15.30
- PolyPhen-2 0.06
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available
- Literature evidence available