A4T (p.Ala4Thr) variant of SLC40A1 (Ferroportin)
A4T (p.Ala4Thr) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- TOPMed rs1297054517
- gnomAD rs1297054517
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.30
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available