L16I (p.Leu16Ile) variant of GUCY2D (Retinal guanylyl cyclase 1)
L16I (p.Leu16Ile) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L16I (p.Leu16Ile) variant details
- p.Leu16Ile
- gnomAD 17-8003093-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.05
- ESM-1b 0.59
- AlphaMissense 0.09
- CADD 11.60
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- Literature evidence available