G53C (p.Gly53Cys) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G53C (p.Gly53Cys) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G53C (p.Gly53Cys) variant details
- p.Gly53Cys
- gnomAD 16-31484703-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.66
- CADD 24.70
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available