L330P (p.Leu330Pro) variant of SLC35A2 (UDP-galactose translocator)
L330P (p.Leu330Pro) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of SLC35A2-congenital disorder of glycosylation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
L330P (p.Leu330Pro) variant details
- p.Leu330Pro
- rs2063477376
- ClinGen CA412894568
- ClinVar RCV001289474
- Ensembl rs2063477376
- Likely pathogenic
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.97
- MetaLR 0.67
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (SLC35A2-congenital disorder of glycosylation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available