S43F (p.Ser43Phe) variant of SLC5A2 (Sodium/glucose cotransporter 2)
S43F (p.Ser43Phe) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S43F (p.Ser43Phe) variant details
- p.Ser43Phe
- ExAC rs759939770
- TOPMed rs759939770
- gnomAD rs759939770
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available