V4I (p.Val4Ile) variant of SLC35A2 (UDP-galactose translocator)
V4I (p.Val4Ile) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
V4I (p.Val4Ile) variant details
- p.Val4Ile
- NCI-TCGA TCGA novel
- TOPMed rs1557044125
- gnomAD rs1557044125
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.05
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available