L39P (p.Leu39Pro) variant of GUCY2D (Retinal guanylyl cyclase 1)
L39P (p.Leu39Pro) in GUCY2D (Retinal guanylyl cyclase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L39P (p.Leu39Pro) variant details
- p.Leu39Pro
- TOPMed rs1316383527
- gnomAD rs1316383527
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available