H118R (p.His118Arg) variant of SLC40A1 (Ferroportin)
H118R (p.His118Arg) in SLC40A1 (Ferroportin) 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 0.33 / 1. The record also includes population frequency data and structural context.
H118R (p.His118Arg) variant details
- p.His118Arg
- ExAC rs755671419
- TOPMed rs755671419
- gnomAD rs755671419
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.29
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available