L42P (p.Leu42Pro) variant of GUCY2D (Retinal guanylyl cyclase 1)
L42P (p.Leu42Pro) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L42P (p.Leu42Pro) variant details
- p.Leu42Pro
- TOPMed rs1201747201
- gnomAD rs1201747201
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.55
- ESM-1b 0.17
- AlphaMissense 0.10
- CADD 22.70
- PolyPhen-2 0.60
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available