S209L (p.Ser209Leu) variant of SLC40A1 (Ferroportin)
S209L (p.Ser209Leu) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S209L (p.Ser209Leu) variant details
- p.Ser209Leu
- rs200018415
- ClinGen CA2024189
- ClinVar RCV001223419
- ClinVar RCV004697075
- Pathogenic/Likely pathogenic
- not provided; Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.35
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.15
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hemochromatosis type 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available