A8T (p.Ala8Thr) variant of GUCY2D (Retinal guanylyl cyclase 1)
A8T (p.Ala8Thr) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- gnomAD 17-8003069-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 18.30
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available