D13G (p.Asp13Gly) variant of GUCY2D (Retinal guanylyl cyclase 1)
D13G (p.Asp13Gly) 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.
D13G (p.Asp13Gly) variant details
- p.Asp13Gly
- gnomAD rs1373473769
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available