M173V (p.Met173Val) variant of SLC40A1 (Ferroportin)
M173V (p.Met173Val) 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 0.72 / 1. The record also includes structural context.
M173V (p.Met173Val) variant details
- p.Met173Val
- rs1278518794
- ClinGen CA349989023
- ClinVar RCV001420119
- Ensembl rs1278518794
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- AlphaMissense 0.40
- MetaLR 0.85
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.47
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available