A3V (p.Ala3Val) variant of SLC35A2 (UDP-galactose translocator)
A3V (p.Ala3Val) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of SLC35A2-congenital disorder of glycosylation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs946472167
- ClinGen CA329102088
- ClinVar RCV001046470
- TOPMed rs946472167
- Benign
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.16
- CADD 29.20
- PolyPhen-2 0.75
- SIFT 0.03
- ClinVar: Benign (SLC35A2-congenital disorder of glycosylation)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00039)
- Structural context available