S98A (p.Ser98Ala) variant of SLC37A4 (O43826)
S98A (p.Ser98Ala) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
S98A (p.Ser98Ala) variant details
- p.Ser98Ala
- ESP rs375417499
- ExAC rs375417499
- TOPMed rs375417499
- gnomAD rs375417499
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 22.20
- PolyPhen-2 0.09
- SIFT 0.01
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available