M98I (p.Met98Ile) variant of SLC2A1 (P11166)
M98I (p.Met98Ile) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GLUT1 deficiency syndrome 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M98I (p.Met98Ile) variant details
- p.Met98Ile
- rs2124450464
- ClinGen CA339961385
- ClinVar RCV001981580
- Ensembl rs2124450464
- Uncertain significance
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.15
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Uncertain significance (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available