S73F (p.Ser73Phe) variant of SLC2A1 (P11166)
S73F (p.Ser73Phe) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Childhood onset GLUT1 deficiency syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
S73F (p.Ser73Phe) variant details
- p.Ser73Phe
- rs1643484697
- ClinGen CA339961903
- NCI-TCGA Cosmic COSV6528
- ClinVar RCV001270785
- Uncertain significance
- Childhood onset GLUT1 deficiency syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 0.98
- MetaLR 0.64
- MetaSVM 0.46
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.79
- ClinVar: Uncertain significance (Childhood onset GLUT1 deficiency syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)