N174S (p.Asn174Ser) variant of SLC40A1 (Ferroportin)
N174S (p.Asn174Ser) 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 0.88 / 1. The record also includes structural context.
N174S (p.Asn174Ser) variant details
- p.Asn174Ser
- rs1397119020
- ClinGen CA349989010
- ClinVar RCV001205916
- Ensembl rs1397119020
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.90
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.63
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- EBI: Variant of uncertain significance (in iron overload)
- UniProt: Uncertain significance (in iron overload)
- Structural context available