S148L (p.Ser148Leu) variant of SLC2A1 (P11166)
S148L (p.Ser148Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
S148L (p.Ser148Leu) variant details
- p.Ser148Leu
- rs1643479604
- ClinGen CA339960623
- NCI-TCGA Cosmic COSV6528
- ClinVar RCV001069131
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.80
- MetaLR 0.57
- MetaSVM 0.34
- PolyPhen-2 0.69
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available