R49I (p.Arg49Ile) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R49I (p.Arg49Ile) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R49I (p.Arg49Ile) variant details
- p.Arg49Ile
- gnomAD 16-31484692-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.87
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available