A57T (p.Ala57Thr) variant of SLC35A2 (UDP-galactose translocator)
A57T (p.Ala57Thr) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; SLC35A2-congenital disorder of glycosylation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- rs151120284
- ClinGen CA10406185
- NCI-TCGA Cosmic COSV5594
- cosmic curated COSV55946
- Conflicting interpretations
- Inborn genetic diseases; SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.06
- CADD 18.40
- PolyPhen-2 0.07
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; SLC35A2-congenital disorder of glycosyl)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00039)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)