M420I (p.Met420Ile) variant of SLC2A1 (P11166)
M420I (p.Met420Ile) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epilepsy, idiopathic generalized, susceptibility to, 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
M420I (p.Met420Ile) variant details
- p.Met420Ile
- rs2124446216
- ClinGen CA339953644
- ClinVar RCV002012001
- ClinVar RCV002265051
- Likely pathogenic
- Epilepsy, idiopathic generalized, susceptibility to, 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.36
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Likely pathogenic (Epilepsy, idiopathic generalized, susceptibility to, 12)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)