L40L (p.Leu40Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
L40L (p.Leu40Leu) in GUCY2D (Retinal guanylyl cyclase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L40L (p.Leu40Leu) variant details
- p.Leu40Leu
- gnomAD 17-8003165-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 5.64
- Population evidence available
- Structural context available
- Literature evidence available