F72L (p.Phe72Leu) variant of SLC2A1 (P11166)
F72L (p.Phe72Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
F72L (p.Phe72Leu) variant details
- p.Phe72Leu
- rs2124450806
- ClinGen CA339961922
- ClinVar RCV002852915
- Ensembl rs2124450806
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.99
- MetaLR 0.46
- MetaSVM -0.12
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available