V105L (p.Val105Leu) variant of SLC2A1 (P11166)
V105L (p.Val105Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome 1, autosomal r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V105L (p.Val105Leu) variant details
- p.Val105Leu
- rs577667739
- ClinGen CA339961288
- ClinVar RCV000494313
- ClinVar RCV002527078
- Uncertain significance
- Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome 1, autosomal r
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.15
- MetaLR 0.32
- MetaSVM -0.76
- PolyPhen-2 0.48
- SIFT 0.03
- EVE 0.49
- ClinVar: Uncertain significance (Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrom)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)