K85N (p.Lys85Asn) variant of SLC40A1 (Ferroportin)
K85N (p.Lys85Asn) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K85N (p.Lys85Asn) variant details
- p.Lys85Asn
- TOPMed rs1476073918
- gnomAD rs1476073918
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.53
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available