L36P (p.Leu36Pro) variant of GUCY2D (Retinal guanylyl cyclase 1)
L36P (p.Leu36Pro) in GUCY2D (Retinal guanylyl cyclase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L36P (p.Leu36Pro) variant details
- p.Leu36Pro
- gnomAD 17-8003153-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 20.60
- Population evidence available
- Structural context available
- Literature evidence available