R60S (p.Arg60Ser) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R60S (p.Arg60Ser) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R60S (p.Arg60Ser) variant details
- p.Arg60Ser
- gnomAD 16-31484724-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.76
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available