H102R (p.His102Arg) variant of SLC35A2 (UDP-galactose translocator)
H102R (p.His102Arg) 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 0.33 / 1. The record also includes population frequency data and structural context.
H102R (p.His102Arg) variant details
- p.His102Arg
- gnomAD rs1557043147
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.23
- CADD 16.40
- PolyPhen-2 0.03
- SIFT 0.25
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- Structural context available