G339C (p.Gly339Cys) variant of SLC37A4 (O43826)
G339C (p.Gly339Cys) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Glycogen storage disease; Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G339C (p.Gly339Cys) variant details
- p.Gly339Cys
- rs80356490
- UniProt VAR 003185
- ESP rs80356490
- ExAC rs80356490
- Pathogenic
- not provided; Glycogen storage disease; Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Glycogen storage disease; Glucose-6-phosphate tran)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Cited in: Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies. (PMID 35304602)
- Cited in: Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT. (PMID 41136424)