R64H (p.Arg64His) variant of SLC35A2 (UDP-galactose translocator)
R64H (p.Arg64His) 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 0.24 / 1. The record also includes population frequency data and structural context.
R64H (p.Arg64His) variant details
- p.Arg64His
- rs201465248
- ClinGen CA10406182
- ClinVar RCV003741085
- ExAC rs201465248
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.05
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- Structural context available