G10A (p.Gly10Ala) variant of GUCY2D (Retinal guanylyl cyclase 1)
G10A (p.Gly10Ala) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G10A (p.Gly10Ala) variant details
- p.Gly10Ala
- gnomAD rs1426615803
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available