V98L (p.Val98Leu) variant of SLC40A1 (Ferroportin)
V98L (p.Val98Leu) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V98L (p.Val98Leu) variant details
- p.Val98Leu
- rs1429796784
- ClinGen CA349989539
- ClinVar RCV002926673
- TOPMed rs1429796784
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- AlphaMissense 0.18
- MetaLR 0.25
- MetaSVM -0.91
- PolyPhen-2 0.01
- SIFT 0.18
- EVE 0.13
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available