D63N (p.Asp63Asn) variant of SLC35A2 (UDP-galactose translocator)
D63N (p.Asp63Asn) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of SLC35A2-congenital disorder of glycosylation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
D63N (p.Asp63Asn) variant details
- p.Asp63Asn
- rs2147496595
- ClinGen CA412897766
- ClinVar RCV002106204
- Ensembl rs2147496595
- Likely benign
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.18
- MetaLR 0.15
- MetaSVM -0.97
- PolyPhen-2 0.26
- SIFT 0.04
- EVE 0.33
- ClinVar: Likely benign (SLC35A2-congenital disorder of glycosylation)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available