W78C (p.Trp78Cys) variant of SLC37A4 (O43826)
W78C (p.Trp78Cys) 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 0.80 / 1. The record also includes population frequency data and structural context.
W78C (p.Trp78Cys) variant details
- p.Trp78Cys
- Ensembl rs781857990
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available