W158L (p.Trp158Leu) variant of SLC40A1 (Ferroportin)
W158L (p.Trp158Leu) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
W158L (p.Trp158Leu) variant details
- p.Trp158Leu
- rs387907375
- ClinGen CA215960
- ClinVar RCV000049566
- Ensembl rs387907375
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 0.52
- SIFT 0.00
- EVE 0.91
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available