E42A (p.Glu42Ala) variant of SLC2A1 (P11166)
E42A (p.Glu42Ala) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Dystonia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E42A (p.Glu42Ala) variant details
- p.Glu42Ala
- rs748082803
- ClinGen CA318419
- ClinVar RCV000189348
- ClinVar RCV000819050
- Conflicting interpretations
- not specified; not provided; Dystonia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.16
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Dystonia 9)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)