I20T (p.Ile20Thr) variant of SLC5A2 (Sodium/glucose cotransporter 2)
I20T (p.Ile20Thr) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
I20T (p.Ile20Thr) variant details
- p.Ile20Thr
- ExAC rs755173135
- TOPMed rs755173135
- gnomAD rs755173135
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.58
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available