L215F (p.Leu215Phe) variant of SLC2A1 (P11166)
L215F (p.Leu215Phe) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
L215F (p.Leu215Phe) variant details
- p.Leu215Phe
- rs1570592813
- ClinGen CA339958526
- ClinVar RCV000821549
- ClinVar RCV001664443
- Likely pathogenic
- not provided; GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.49
- MetaLR 0.42
- MetaSVM -0.19
- PolyPhen-2 0.33
- SIFT 0.03
- EVE 0.24
- ClinVar: Likely pathogenic (not provided; GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available