R368W (p.Arg368Trp) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R368W (p.Arg368Trp) 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 0.61 / 1. The record also includes population frequency data and structural context.
R368W (p.Arg368Trp) variant details
- p.Arg368Trp
- rs148410166
- ClinGen CA8030983
- ClinVar RCV001702314
- ClinVar RCV002503164
- Likely pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.66
- CADD 31.00
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial renal glucosuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available