P12S (p.Pro12Ser) variant of GUCY2D (Retinal guanylyl cyclase 1)
P12S (p.Pro12Ser) 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 Inborn genetic diseases; not provided. 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.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- TOPMed rs1211177711
- gnomAD rs1211177711
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available