V98I (p.Val98Ile) variant of SLC35A2 (UDP-galactose translocator)
V98I (p.Val98Ile) 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 0.14 / 1. The record also includes population frequency data and structural context.
V98I (p.Val98Ile) variant details
- p.Val98Ile
- rs148582301
- ClinGen CA329099448
- ClinVar RCV003740932
- ESP rs148582301
- Benign
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.03
- CADD 10.70
- PolyPhen-2 0.03
- SIFT 0.45
- ClinVar: Benign (SLC35A2-congenital disorder of glycosylation)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GWD population (allele frequency 0.0058)
- Structural context available