T5K (p.Thr5Lys) variant of SLC5A2 (Sodium/glucose cotransporter 2)
T5K (p.Thr5Lys) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T5K (p.Thr5Lys) variant details
- p.Thr5Lys
- gnomAD 16-31483150-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.22
- CADD 9.52
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available