M1I (p.Met1Ile) variant of SLC35A2 (UDP-galactose translocator)
M1I (p.Met1Ile) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs587776962
- ClinGen CA143744
- ClinVar RCV000043516
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- MetaLR 0.35
- MetaSVM -0.43
- PolyPhen-2 0.27
- SIFT 0.00
- MutPred 0.84
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. (PMID 23561849)