A32V (p.Ala32Val) variant of GUCY2D (Retinal guanylyl cyclase 1)
A32V (p.Ala32Val) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- gnomAD 17-8003142-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 6.68
- PolyPhen-2 0.00
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available