I129M (p.Ile129Met) variant of SLC2A1 (P11166)
I129M (p.Ile129Met) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of GLUT1 deficiency syndrome 1, autosomal recessive; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
I129M (p.Ile129Met) variant details
- p.Ile129Met
- rs751907207
- ClinGen CA803547
- ClinVar RCV000704712
- ClinVar RCV002360818
- Conflicting interpretations
- GLUT1 deficiency syndrome 1, autosomal recessive; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.47
- CADD 0.98
- PolyPhen-2 0.56
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (GLUT1 deficiency syndrome 1, autosomal recessive; Inborn genetic)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)