R9G (p.Arg9Gly) variant of SLC40A1 (Ferroportin)
R9G (p.Arg9Gly) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, 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 0.31 / 1. The record also includes population frequency data and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- rs747421463
- ClinGen CA2024342
- ClinVar RCV002716579
- ExAC rs747421463
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.27
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available