Y24C (p.Tyr24Cys) variant of SLC37A4 (O43826)
Y24C (p.Tyr24Cys) 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 0.67 / 1. The record also includes population frequency data and structural context.
Y24C (p.Tyr24Cys) variant details
- p.Tyr24Cys
- 1000Genomes rs569831771
- ExAC rs569831771
- gnomAD rs569831771
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance (in GSD1B)
- UniProt: Uncertain significance (in GSD1B)
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available