A67V (p.Ala67Val) variant of SLC35A2 (UDP-galactose translocator)
A67V (p.Ala67Val) 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 0.36 / 1. The record also includes population frequency data and structural context.
A67V (p.Ala67Val) variant details
- p.Ala67Val
- rs2519660682
- ClinGen CA412897735
- ClinVar RCV003878510
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.14
- CADD 23.70
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0058)
- Structural context available