N185T (p.Asn185Thr) variant of SLC40A1 (Ferroportin)
N185T (p.Asn185Thr) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
N185T (p.Asn185Thr) variant details
- p.Asn185Thr
- rs2105622062
- ClinGen CA349988943
- ClinVar RCV001420129
- Ensembl rs2105622062
- Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.30
- MetaLR 0.87
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Likely pathogenic (Hemochromatosis type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available