V105M (p.Val105Met) variant of SLC2A1 (P11166)
V105M (p.Val105Met) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of GLUT1 deficiency syndrome 1, autosomal recessive; Hereditary cryohydrocytosis wi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V105M (p.Val105Met) variant details
- p.Val105Met
- rs577667739
- ClinGen CA318425
- ClinVar RCV000346798
- ClinVar RCV000394308
- Conflicting interpretations
- GLUT1 deficiency syndrome 1, autosomal recessive; Hereditary cryohydrocytosis wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.50
- AlphaMissense 0.15
- MetaLR 0.32
- MetaSVM -0.76
- CADD 3.74
- PolyPhen-2 0.48
- ClinVar: Conflicting classifications of pathogenicity (GLUT1 deficiency syndrome 1, autosomal recessive; Hereditary cry)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- 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)