W64G (p.Trp64Gly) variant of SLC5A2 (Sodium/glucose cotransporter 2)
W64G (p.Trp64Gly) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
W64G (p.Trp64Gly) variant details
- p.Trp64Gly
- rs76577328
- ClinGen CA395751536
- ClinVar RCV003328059
- 1000Genomes rs76577328
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.85
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available