L129H (p.Leu129His) variant of SLC40A1 (Ferroportin)
L129H (p.Leu129His) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
L129H (p.Leu129His) variant details
- p.Leu129His
- TOPMed rs2031173886
- gnomAD rs2031173886
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.86
- CADD 27.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available