L43P (p.Leu43Pro) variant of SLC35A2 (UDP-galactose translocator)
L43P (p.Leu43Pro) 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 0.65 / 1. The record also includes structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- rs1602344901
- ClinGen CA412898001
- ClinVar RCV000990816
- Ensembl rs1602344901
- Likely pathogenic
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 1.00
- MetaLR 0.51
- MetaSVM 0.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (SLC35A2-congenital disorder of glycosylation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available