F66S (p.Phe66Ser) variant of SLC35A2 (UDP-galactose translocator)
F66S (p.Phe66Ser) 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 not provided; SLC35A2-congenital disorder of glycosylation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
F66S (p.Phe66Ser) variant details
- p.Phe66Ser
- rs142990922
- ClinGen CA10406181
- ClinVar RCV001975578
- ClinVar RCV004774571
- Uncertain significance
- not provided; SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.37
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; SLC35A2-congenital disorder of glycosylation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0065)
- Structural context available