K64R (p.Lys64Arg) variant of SLC37A4 (O43826)
K64R (p.Lys64Arg) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucose-6-phosphate transport defect; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
K64R (p.Lys64Arg) variant details
- p.Lys64Arg
- rs2497033394
- ClinGen CA382906235
- ClinVar RCV003617677
- ClinVar RCV004963766
- Uncertain significance
- Glucose-6-phosphate transport defect; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Glycogen Storage Disease Type I. (PMID 20301489)
- Cited in: Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical… (PMID 25356975)