G164R (p.Gly164Arg) variant of SLC40A1 (Ferroportin)
G164R (p.Gly164Arg) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G164R (p.Gly164Arg) variant details
- p.Gly164Arg
- ExAC rs756389348
- gnomAD rs756389348
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.84
- CADD 27.60
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available