I20S (p.Ile20Ser) variant of SLC5A2 (Sodium/glucose cotransporter 2)
I20S (p.Ile20Ser) 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, published literature, and structural context.
I20S (p.Ile20Ser) variant details
- p.Ile20Ser
- gnomAD 16-31483195-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.58
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available