R6S (p.Arg6Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
R6S (p.Arg6Ser) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- gnomAD 17-8003063-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available