A103D (p.Ala103Asp) variant of SLC2A1 (P11166)
A103D (p.Ala103Asp) 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.
A103D (p.Ala103Asp) variant details
- p.Ala103Asp
- rs1175342430
- ClinGen CA339961314
- ClinVar RCV002886385
- ClinVar RCV004763472
- Uncertain significance
- GLUT1 deficiency syndrome 1, autosomal recessive; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.73
- AlphaMissense 0.97
- MetaLR 0.60
- MetaSVM 0.32
- CADD 28.60
- PolyPhen-2 0.49
- 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 1.5e-05)
- Structural context available