S19F (p.Ser19Phe) variant of SLC35A2 (UDP-galactose translocator)
S19F (p.Ser19Phe) 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; not provided. 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.
S19F (p.Ser19Phe) variant details
- p.Ser19Phe
- rs781945687
- ClinGen CA10406216
- ClinVar RCV002265270
- ClinVar RCV003095988
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.09
- CADD 22.20
- PolyPhen-2 0.40
- SIFT 0.01
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00027)
- Structural context available