K46R (p.Lys46Arg) variant of SLC37A4 (O43826)
K46R (p.Lys46Arg) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
K46R (p.Lys46Arg) variant details
- p.Lys46Arg
- ExAC rs782754055
- gnomAD rs782754055
- Uncertain significance
- Inborn genetic diseases; Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- CADD 27.60
- PolyPhen-2 0.39
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available