P12L (p.Pro12Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
P12L (p.Pro12Leu) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- gnomAD rs1421146833
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 5.70
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available