R60L (p.Arg60Leu) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R60L (p.Arg60Leu) 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, published literature, and structural context.
R60L (p.Arg60Leu) variant details
- p.Arg60Leu
- gnomAD 16-31484725-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.92
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available