R34H (p.Arg34His) variant of SLC35A2 (UDP-galactose translocator)
R34H (p.Arg34His) 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 0.34 / 1. The record also includes population frequency data and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- rs1199079627
- ClinGen CA412898068
- ClinVar RCV001364069
- TOPMed rs1199079627
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.10
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0075)
- Structural context available