K117R (p.Lys117Arg) variant of SLC2A1 (P11166)
K117R (p.Lys117Arg) 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 0.23 / 1. The record also includes population frequency data and structural context.
K117R (p.Lys117Arg) variant details
- p.Lys117Arg
- ExAC rs748648403
- TOPMed rs748648403
- gnomAD rs748648403
- Uncertain significance
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.16
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.59
- ClinVar: Uncertain significance (GLUT1 deficiency syndrome 1, autosomal recessive)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available