G16W (p.Gly16Trp) variant of SLC35A2 (UDP-galactose translocator)
G16W (p.Gly16Trp) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CDG2M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G16W (p.Gly16Trp) variant details
- p.Gly16Trp
- gnomAD rs1557044094
- Uncertain significance
- in CDG2M
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.11
- CADD 22.00
- PolyPhen-2 0.37
- SIFT 0.00
- EBI: uncertain significance (in CDG2M)
- UniProt: Uncertain significance (in CDG2M)
- Most common in the African/African-American population (allele frequency 0.00049)
- Structural context available