S9F (p.Ser9Phe) variant of SLC35A2 (UDP-galactose translocator)
S9F (p.Ser9Phe) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- rs2519667774
- ClinGen CA412898914
- ClinVar RCV002437386
- cosmic curated COSV55946
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.12
- CADD 22.00
- PolyPhen-2 0.07
- SIFT 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)