P25L (p.Pro25Leu) variant of SLC35A2 (UDP-galactose translocator)
P25L (p.Pro25Leu) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of SLC35A2-congenital disorder of glycosylation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- rs781993117
- ClinGen CA10406213
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99900
- Benign
- SLC35A2-congenital disorder of glycosylation
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.06
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Benign (SLC35A2-congenital disorder of glycosylation)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00011)
- Structural context available