N27S (p.Asn27Ser) variant of SLC37A4 (O43826)
N27S (p.Asn27Ser) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N27S (p.Asn27Ser) variant details
- p.Asn27Ser
- ExAC rs782308530
- TOPMed rs782308530
- gnomAD rs782308530
- Conflicting interpretations
- not provided; Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Glucose-6-phosphate transport defect)
- EBI: Benign (in GSD1B)
- UniProt: Benign (in GSD1B)
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.045)
- Structural context available