H337L (p.His337Leu) variant of SLC2A1 (P11166)
H337L (p.His337Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Self-limited epilepsy with centrotemporal spikes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
H337L (p.His337Leu) variant details
- p.His337Leu
- rs1553155982
- ClinGen CA339955933
- ClinVar RCV000655968
- Ensembl rs1553155982
- Pathogenic
- Self-limited epilepsy with centrotemporal spikes
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.34
- MetaLR 0.20
- MetaSVM -0.85
- PolyPhen-2 0.01
- SIFT 0.32
- EVE 0.16
- ClinVar: Pathogenic (Self-limited epilepsy with centrotemporal spikes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available