L36V (p.Leu36Val) variant of GUCY2D (Retinal guanylyl cyclase 1)
L36V (p.Leu36Val) 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.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- gnomAD 17-8003153-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.11
- ESM-1b 0.16
- AlphaMissense 0.08
- CADD 6.98
- PolyPhen-2 0.02
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available