N172N (p.Asn172Asn) variant of SLC40A1 (Ferroportin)
N172N (p.Asn172Asn) in SLC40A1 (Ferroportin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
N172N (p.Asn172Asn) variant details
- p.Asn172Asn
- gnomAD 2-189565598-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0776
- CADD 4.61
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available