M35L (p.Met35Leu) variant of SLC37A4 (O43826)
M35L (p.Met35Leu) 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 0.62 / 1. The record also includes population frequency data and structural context.
M35L (p.Met35Leu) variant details
- p.Met35Leu
- ExAC rs782533083
- TOPMed rs782533083
- gnomAD rs782533083
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 22.60
- PolyPhen-2 0.87
- SIFT 0.27
- 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 4.4e-05)
- Structural context available