G54S (p.Gly54Ser) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G54S (p.Gly54Ser) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- ESP rs373741171
- ExAC rs373741171
- TOPMed rs373741171
- gnomAD rs373741171
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.83
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available