L40Q (p.Leu40Gln) variant of GUCY2D (Retinal guanylyl cyclase 1)
L40Q (p.Leu40Gln) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
L40Q (p.Leu40Gln) variant details
- p.Leu40Gln
- Ensembl rs1975662121
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- ESM-1b 1.00
- AlphaMissense 0.21
- Structural context available