S97R (p.Ser97Arg) variant of SLC37A4 (O43826)
S97R (p.Ser97Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S97R (p.Ser97Arg) variant details
- p.Ser97Arg
- 1000Genomes rs561054469
- ExAC rs561054469
- TOPMed rs561054469
- gnomAD rs561054469
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.01)
- Structural context available