M123L (p.Met123Leu) variant of SLC40A1 (Ferroportin)
M123L (p.Met123Leu) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M123L (p.Met123Leu) variant details
- p.Met123Leu
- ESP rs370057411
- ExAC rs370057411
- TOPMed rs370057411
- gnomAD rs370057411
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.18
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.98
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available