K321R (p.Lys321Arg) variant of SLC5A2 (Sodium/glucose cotransporter 2)
K321R (p.Lys321Arg) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial renal glucosuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
K321R (p.Lys321Arg) variant details
- p.Lys321Arg
- rs201511529
- 1000Genomes rs201511529
- ExAC rs201511529
- TOPMed rs201511529
- Pathogenic/Likely pathogenic
- Familial renal glucosuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial renal glucosuria; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available