H125R (p.His125Arg) variant of SLC40A1 (Ferroportin)
H125R (p.His125Arg) 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 0.47 / 1. The record also includes population frequency data and structural context.
H125R (p.His125Arg) variant details
- p.His125Arg
- ExAC rs753119904
- gnomAD rs753119904
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.47
- CADD 23.20
- PolyPhen-2 0.65
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available