P120S (p.Pro120Ser) variant of SLC37A4 (O43826)
P120S (p.Pro120Ser) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P120S (p.Pro120Ser) variant details
- p.Pro120Ser
- TOPMed rs1045954164
- gnomAD rs1045954164
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.35
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available