A88V (p.Ala88Val) variant of SLC35A2 (UDP-galactose translocator)
A88V (p.Ala88Val) 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 0.32 / 1. The record also includes population frequency data and structural context.
A88V (p.Ala88Val) variant details
- p.Ala88Val
- rs375442287
- ClinGen CA10406175
- ClinVar RCV001205372
- ESP rs375442287
- Benign
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.08
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Benign (SLC35A2-congenital disorder of glycosylation)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:YRI population (allele frequency 0.0058)
- Structural context available