V108M (p.Val108Met) variant of SLC2A1 (P11166)
V108M (p.Val108Met) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Epilepsy, idiopathic generalized, susceptibility to, 12; Dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V108M (p.Val108Met) variant details
- p.Val108Met
- rs74323945
- ClinGen CA803556
- ClinVar RCV000730291
- ClinVar RCV001855633
- Conflicting interpretations
- not provided; Epilepsy, idiopathic generalized, susceptibility to, 12; Dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.31
- AlphaMissense 0.12
- MetaLR 0.44
- MetaSVM -0.18
- CADD 22.30
- PolyPhen-2 0.94
- ClinVar: Conflicting classifications of pathogenicity (not provided; Epilepsy, idiopathic generalized, susceptibility t)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- 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)