S263N (p.Ser263Asn) variant of SLC37A4 (O43826)
S263N (p.Ser263Asn) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S263N (p.Ser263Asn) variant details
- p.Ser263Asn
- rs2497021163
- ClinGen CA382900642
- ClinVar RCV002287549
- Likely pathogenic
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 25.40
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Likely pathogenic (Glucose-6-phosphate transport defect)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Glycogen Storage Disease Type I. (PMID 20301489)
- Cited in: Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical… (PMID 25356975)