A32G (p.Ala32Gly) variant of GUCY2D (Retinal guanylyl cyclase 1)
A32G (p.Ala32Gly) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A32G (p.Ala32Gly) variant details
- p.Ala32Gly
- gnomAD 17-8003142-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 6.04
- PolyPhen-2 0.02
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available