K123N (p.Lys123Asn) variant of SLC37A4 (O43826)
K123N (p.Lys123Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
K123N (p.Lys123Asn) variant details
- p.Lys123Asn
- gnomAD rs1218213940
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available