S5G (p.Ser5Gly) variant of SLC2A1 (P11166)
S5G (p.Ser5Gly) in SLC2A1 (P11166) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- ExAC rs780680200
- TOPMed rs780680200
- gnomAD rs780680200
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.27
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available