P19L (p.Pro19Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
P19L (p.Pro19Leu) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- Ensembl rs1598143702
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 0.00017)
- Structural context available