N174I (p.Asn174Ile) variant of SLC40A1 (Ferroportin)
N174I (p.Asn174Ile) in SLC40A1 (Ferroportin) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in iron overload. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
N174I (p.Asn174Ile) variant details
- p.Asn174Ile
- rs1397119020
- UniProt VAR 030062
- Ensembl rs1397119020
- Benign
- in iron overload
- 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
- EBI: Benign (in iron overload)
- UniProt: Benign (in iron overload)
- Structural context available
- Cited in: The ferroportin disease. (PMID 14757427)