P25T (p.Pro25Thr) variant of SLC35A2 (UDP-galactose translocator)
P25T (p.Pro25Thr) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of SLC35A2-congenital disorder of glycosylation; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P25T (p.Pro25Thr) variant details
- p.Pro25Thr
- rs1443492116
- ClinGen CA412898746
- ClinVar RCV003740897
- ClinVar RCV005435291
- Conflicting interpretations
- SLC35A2-congenital disorder of glycosylation; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.04
- CADD 14.40
- PolyPhen-2 0.03
- SIFT 0.37
- ClinVar: Conflicting classifications of pathogenicity (SLC35A2-congenital disorder of glycosylation; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00024)
- Structural context available