G16V (p.Gly16Val) variant of SLC35A2 (UDP-galactose translocator)
G16V (p.Gly16Val) 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 0.24 / 1. The record also includes population frequency data and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- TOPMed rs1173827222
- gnomAD rs1173827222
- Uncertain significance
- in CDG2M
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.05
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Variant of uncertain significance (in CDG2M)
- UniProt: Uncertain significance (in CDG2M)
- Most common in the African/African-American population (allele frequency 0.00045)
- Structural context available