A88T (p.Ala88Thr) variant of SLC35A2 (UDP-galactose translocator)
A88T (p.Ala88Thr) 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 0.29 / 1. The record also includes population frequency data and structural context.
A88T (p.Ala88Thr) variant details
- p.Ala88Thr
- rs1557043615
- cosmic curated COSV10801
- TOPMed rs1557043615
- gnomAD rs1557043615
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.04
- CADD 18.20
- PolyPhen-2 0.03
- SIFT 0.39
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available