G9V (p.Gly9Val) variant of GUCY2D (Retinal guanylyl cyclase 1)
G9V (p.Gly9Val) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- gnomAD rs1262404909
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 24.80
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available