L40P (p.Leu40Pro) variant of GUCY2D (Retinal guanylyl cyclase 1)
L40P (p.Leu40Pro) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L40P (p.Leu40Pro) variant details
- p.Leu40Pro
- gnomAD 17-8003166-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.60
- PolyPhen-2 0.83
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available