A20T (p.Ala20Thr) variant of GUCY2D (Retinal guanylyl cyclase 1)
A20T (p.Ala20Thr) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- gnomAD 17-8003105-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 2.92
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available