I20L (p.Ile20Leu) variant of SLC5A2 (Sodium/glucose cotransporter 2)
I20L (p.Ile20Leu) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
I20L (p.Ile20Leu) variant details
- p.Ile20Leu
- gnomAD rs1162708635
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.49
- CADD 20.40
- PolyPhen-2 0.95
- SIFT 0.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available