P15T (p.Pro15Thr) variant of SLC35A2 (UDP-galactose translocator)
P15T (p.Pro15Thr) 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; Inborn genetic diseases; not speci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- rs55719932
- ClinGen CA10406217
- cosmic curated COSV55946
- ClinVar RCV000438491
- Benign
- SLC35A2-congenital disorder of glycosylation; Inborn genetic diseases; not speci
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.02
- CADD 6.77
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Benign (SLC35A2-congenital disorder of glycosylation; Inborn genetic dis)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:ORCADIAN population (allele frequency 0.091)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)