D157V (p.Asp157Val) variant of SLC40A1 (Ferroportin)
D157V (p.Asp157Val) in SLC40A1 (Ferroportin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in HFE4. The record also includes variant effect predictions and structural context.
D157V (p.Asp157Val) variant details
- p.Asp157Val
- Ensembl rs104893663
- Likely pathogenic
- in HFE4
- Missense
- MetaLR 0.95
- MetaSVM 1.10
- SIFT 0.00
- EBI: Likely pathogenic (in HFE4)
- UniProt: Likely pathogenic (in HFE4)
- Structural context available