R31L (p.Arg31Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
R31L (p.Arg31Leu) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R31L (p.Arg31Leu) variant details
- p.Arg31Leu
- gnomAD 17-8003139-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 3.41
- PolyPhen-2 0.01
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available