F65S (p.Phe65Ser) variant of SLC35A2 (UDP-galactose translocator)
F65S (p.Phe65Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
F65S (p.Phe65Ser) variant details
- p.Phe65Ser
- rs2147496567
- ClinGen CA412897751
- ClinVar RCV001998629
- Ensembl rs2147496567
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- AlphaMissense 0.99
- MetaLR 0.28
- MetaSVM -0.46
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.97
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available