R77H (p.Arg77His) variant of SLC37A4 (O43826)
R77H (p.Arg77His) 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; Phosphate transport defect; Congenital disorder of glyc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R77H (p.Arg77His) variant details
- p.Arg77His
- 1000Genomes rs370839177
- ESP rs370839177
- ExAC rs370839177
- TOPMed rs370839177
- Uncertain significance
- Inborn genetic diseases; Phosphate transport defect; Congenital disorder of glyc
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Phosphate transport defect; Congenital)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available