V16M (p.Val16Met) variant of SLC2A1 (P11166)
V16M (p.Val16Met) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GLUT1 deficiency syndrome 1, autosomal recessive; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V16M (p.Val16Met) variant details
- p.Val16Met
- rs1553156841
- ClinGen CA339964869
- ClinVar RCV001823337
- ClinVar RCV005095287
- Uncertain significance
- GLUT1 deficiency syndrome 1, autosomal recessive; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.71
- AlphaMissense 0.61
- MetaLR 0.82
- MetaSVM 0.80
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (GLUT1 deficiency syndrome 1, autosomal recessive; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available