R55H (p.Arg55His) variant of SLC35A2 (UDP-galactose translocator)
R55H (p.Arg55His) 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 0.53 / 1. The record also includes population frequency data and structural context.
R55H (p.Arg55His) variant details
- p.Arg55His
- rs1557043650
- NCI-TCGA Cosmic COSV5594
- cosmic curated COSV55946
- TOPMed rs1557043650
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.40
- AlphaMissense 0.99
- MetaLR 0.35
- MetaSVM -0.26
- CADD 26.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- EBI: Likely pathogenic (in CDG2M)
- UniProt: Likely pathogenic (in CDG2M)
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- Structural context available