A4V (p.Ala4Val) variant of SLC40A1 (Ferroportin)
A4V (p.Ala4Val) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- TOPMed rs2031425068
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.19
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.18
- Population evidence available
- Structural context available