M98R (p.Met98Arg) variant of SLC2A1 (P11166)
M98R (p.Met98Arg) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar 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 0.74 / 1. The record also includes population frequency data and structural context.
M98R (p.Met98Arg) variant details
- p.Met98Arg
- gnomAD rs1053525817
- Uncertain significance
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.82
- CADD 25.40
- PolyPhen-2 0.52
- SIFT 0.05
- ClinVar: Uncertain significance (GLUT1 deficiency syndrome 1, autosomal recessive)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available