A23T (p.Ala23Thr) variant of GUCY2D (Retinal guanylyl cyclase 1)
A23T (p.Ala23Thr) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD 17-8003114-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 11.30
- PolyPhen-2 0.02
- SIFT 0.60
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available