S43S (p.Ser43Ser) variant of SLC5A2 (Sodium/glucose cotransporter 2)
S43S (p.Ser43Ser) in SLC5A2 (Sodium/glucose cotransporter 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S43S (p.Ser43Ser) variant details
- p.Ser43Ser
- gnomAD 16-31484675-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 14.90
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available