L36I (p.Leu36Ile) variant of GUCY2D (Retinal guanylyl cyclase 1)
L36I (p.Leu36Ile) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L36I (p.Leu36Ile) variant details
- p.Leu36Ile
- gnomAD 17-8003153-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 7.28
- PolyPhen-2 0.04
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available