M123V (p.Met123Val) variant of SLC40A1 (Ferroportin)
M123V (p.Met123Val) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
M123V (p.Met123Val) variant details
- p.Met123Val
- ESP rs370057411
- ExAC rs370057411
- TOPMed rs370057411
- gnomAD rs370057411
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.20
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available