A116T (p.Ala116Thr) variant of SLC35A2 (UDP-galactose translocator)
A116T (p.Ala116Thr) 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 0.58 / 1. The record also includes population frequency data and structural context.
A116T (p.Ala116Thr) variant details
- p.Ala116Thr
- NCI-TCGA Cosmic COSV5442
- cosmic curated COSV54429
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.49
- CADD 26.10
- PolyPhen-2 0.58
- SIFT 0.01
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- UniProt: Uncertain significance (in CDG2M)
- Most common in the Latino/Admixed American population (allele frequency 9.4e-05)
- Structural context available