G449C (p.Gly449Cys) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G449C (p.Gly449Cys) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial renal glucosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
G449C (p.Gly449Cys) variant details
- p.Gly449Cys
- rs773289713
- ClinGen CA395755124
- ClinVar RCV000625556
- ExAC rs773289713
- Likely pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.70
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Likely pathogenic (Familial renal glucosuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available