A32D (p.Ala32Asp) variant of GUCY2D (Retinal guanylyl cyclase 1)
A32D (p.Ala32Asp) 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 and structural context.
A32D (p.Ala32Asp) variant details
- p.Ala32Asp
- Ensembl rs1975661198
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.22
- ESM-1b 0.58
- AlphaMissense 0.13
- CADD 5.49
- PolyPhen-2 0.02
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available