H125Q (p.His125Gln) variant of SLC40A1 (Ferroportin)
H125Q (p.His125Gln) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
H125Q (p.His125Gln) variant details
- p.His125Gln
- TOPMed rs1052452054
- gnomAD rs1052452054
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.20
- CADD 17.10
- PolyPhen-2 0.07
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available