M13L (p.Met13Leu) variant of SLC2A1 (P11166)
M13L (p.Met13Leu) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
M13L (p.Met13Leu) variant details
- p.Met13Leu
- rs774411009
- ClinGen CA339964888
- ClinVar RCV003491497
- ClinVar RCV003517510
- Uncertain significance
- not provided; GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.27
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (not provided; GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available