H96Q (p.His96Gln) variant of SLC35A2 (UDP-galactose translocator)
H96Q (p.His96Gln) 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 0.28 / 1. The record also includes structural context.
H96Q (p.His96Gln) variant details
- p.His96Gln
- rs1470094127
- ClinGen CA412896903
- ClinVar RCV002928788
- Ensembl rs1470094127
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.60
- EVE 0.08
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available