R10H (p.Arg10His) variant of SLC37A4 (O43826)
R10H (p.Arg10His) 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; not provided; Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R10H (p.Arg10His) variant details
- p.Arg10His
- ExAC rs782500443
- TOPMed rs782500443
- gnomAD rs782500443
- Uncertain significance
- Inborn genetic diseases; not provided; Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Glucose-6-phosphate trans)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available