L36F (p.Leu36Phe) variant of GUCY2D (Retinal guanylyl cyclase 1)
L36F (p.Leu36Phe) 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.
L36F (p.Leu36Phe) variant details
- p.Leu36Phe
- gnomAD 17-8003153-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 8.77
- PolyPhen-2 0.19
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available