L23Q (p.Leu23Gln) variant of SLC37A4 (O43826)
L23Q (p.Leu23Gln) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital disorder of glycosylation, type IIw; Glucose-6-phosphate transport de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L23Q (p.Leu23Gln) variant details
- p.Leu23Gln
- ExAC rs781982938
- gnomAD rs781982938
- Uncertain significance
- Congenital disorder of glycosylation, type IIw; Glucose-6-phosphate transport de
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Congenital disorder of glycosylation, type IIw; Glucose-6-phosph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available