Y8C (p.Tyr8Cys) variant of SLC37A4 (O43826)
Y8C (p.Tyr8Cys) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SLC37A4-related disorder; Glucose-6-phosphate transport defect; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Y8C (p.Tyr8Cys) variant details
- p.Tyr8Cys
- ExAC rs782446107
- TOPMed rs782446107
- gnomAD rs782446107
- Uncertain significance
- SLC37A4-related disorder; Glucose-6-phosphate transport defect; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 23.20
- PolyPhen-2 0.86
- SIFT 0.03
- ClinVar: Uncertain significance (SLC37A4-related disorder; Glucose-6-phosphate transport defect;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available