M1V (p.Met1Val) variant of SLC35A2 (UDP-galactose translocator)
M1V (p.Met1Val) 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 0.37 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1042469070
- ClinGen CA16608936
- ClinVar RCV000427117
- ClinVar RCV002286410
- Uncertain significance
- not provided; SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- MetaLR 0.32
- MetaSVM -0.55
- PolyPhen-2 0.14
- SIFT 0.00
- MutPred 0.84
- ClinVar: Uncertain significance (Intellectual disability)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available