S9L (p.Ser9Leu) variant of SLC5A2 (Sodium/glucose cotransporter 2)
S9L (p.Ser9Leu) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial renal glucosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S9L (p.Ser9Leu) variant details
- p.Ser9Leu
- rs564249983
- ClinGen CA8030566
- ClinVar RCV000341488
- 1000Genomes rs564249983
- Uncertain significance
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.21
- CADD 8.72
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Familial renal glucosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available