A116S (p.Ala116Ser) variant of SLC35A2 (UDP-galactose translocator)

Name: SLC35A2 A116S (p.Ala116Ser) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-02
License: https://catvariant.com/terms-of-use

A116S (p.Ala116Ser) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in CDG2M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.

A116S (p.Ala116Ser) variant details

p.Ala116Ser
NCI-TCGA Cosmic COSV5442
Variant assessed as somatic; moderate impact.
in CDG2M
Missense
Variant Prioritization Score for Impact Estimate 0.403
REVEL 0.21
CADD 22.30
PolyPhen-2 0.21
SIFT 0.20
UniProt: Variant assessed as somatic; moderate impact. (in CDG2M)
Most common in the African/African-American population (allele frequency 9.8e-05)
Structural context available