V94M (p.Val94Met) variant of SLC35A2 (UDP-galactose translocator)
V94M (p.Val94Met) 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; See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V94M (p.Val94Met) variant details
- p.Val94Met
- rs782610009
- ClinGen CA412896939
- ClinVar RCV002253176
- ClinVar RCV003933711
- Uncertain significance
- SLC35A2-congenital disorder of glycosylation; See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.07
- CADD 17.40
- PolyPhen-2 0.12
- SIFT 0.17
- ClinVar: Uncertain significance (SLC35A2-congenital disorder of glycosylation; See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00049)
- Structural context available