L41I (p.Leu41Ile) variant of GUCY2D (Retinal guanylyl cyclase 1)
L41I (p.Leu41Ile) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L41I (p.Leu41Ile) variant details
- p.Leu41Ile
- gnomAD 17-8003168-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 9.70
- PolyPhen-2 0.03
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available