M142L (p.Met142Leu) variant of SLC2A1 (P11166)
M142L (p.Met142Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Childhood onset GLUT1 deficiency syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
M142L (p.Met142Leu) variant details
- p.Met142Leu
- rs780519584
- ClinGen CA339960746
- ClinVar RCV003315192
- gnomAD rs780519584
- Likely pathogenic
- Childhood onset GLUT1 deficiency syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.60
- AlphaMissense 0.24
- MetaLR 0.35
- MetaSVM -0.48
- CADD 22.80
- PolyPhen-2 0.02
- ClinVar: Likely pathogenic (Childhood onset GLUT1 deficiency syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)