Y8H (p.Tyr8His) variant of SLC37A4 (O43826)
Y8H (p.Tyr8His) 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 0.52 / 1. The record also includes population frequency data and structural context.
Y8H (p.Tyr8His) variant details
- p.Tyr8His
- ExAC rs782578166
- gnomAD rs782578166
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 22.70
- PolyPhen-2 0.75
- SIFT 0.11
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available