H116Q (p.His116Gln) variant of SLC40A1 (Ferroportin)
H116Q (p.His116Gln) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H116Q (p.His116Gln) variant details
- p.His116Gln
- 1000Genomes rs535193686
- ExAC rs535193686
- TOPMed rs535193686
- gnomAD rs535193686
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.39
- CADD 23.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available