V46A (p.Val46Ala) variant of SLC40A1 (Ferroportin)
V46A (p.Val46Ala) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
V46A (p.Val46Ala) variant details
- p.Val46Ala
- ExAC rs754563739
- gnomAD rs754563739
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.83
- CADD 27.20
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available