E24D (p.Glu24Asp) variant of SLC35A2 (UDP-galactose translocator)
E24D (p.Glu24Asp) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of SLC35A2-congenital disorder of glycosylation; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- rs374961453
- ClinGen CA10406214
- ClinVar RCV000861439
- ClinVar RCV001813805
- Benign/Likely benign
- SLC35A2-congenital disorder of glycosylation; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0824
- REVEL 0.05
- CADD 9.34
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Benign/Likely benign (SLC35A2-congenital disorder of glycosylation; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GWD population (allele frequency 0.0058)
- Structural context available