I38L (p.Ile38Leu) variant of SLC35A2 (UDP-galactose translocator)
I38L (p.Ile38Leu) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SLC35A2-congenital disorder of glycosylation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I38L (p.Ile38Leu) variant details
- p.Ile38Leu
- rs782268788
- ClinGen CA10406190
- ClinVar RCV002090265
- ExAC rs782268788
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.09
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GWD population (allele frequency 0.0058)
- Structural context available