P14L (p.Pro14Leu) variant of GUCY2D (Retinal guanylyl cyclase 1)
P14L (p.Pro14Leu) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- TOPMed rs1975658634
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available