G54C (p.Gly54Cys) variant of SLC5A2 (Sodium/glucose cotransporter 2)
G54C (p.Gly54Cys) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G54C (p.Gly54Cys) variant details
- p.Gly54Cys
- gnomAD 16-31484706-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.93
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available