S81F (p.Ser81Phe) variant of SLC37A4 (O43826)
S81F (p.Ser81Phe) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Glucose-6-phosphate transport defect; Congenital disord. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S81F (p.Ser81Phe) variant details
- p.Ser81Phe
- 1000Genomes rs181879065
- ESP rs181879065
- ExAC rs181879065
- TOPMed rs181879065
- Uncertain significance
- Inborn genetic diseases; Glucose-6-phosphate transport defect; Congenital disord
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 23.80
- PolyPhen-2 0.68
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Glucose-6-phosphate transport defect; C)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.02)
- Structural context available