N8S (p.Asn8Ser) variant of SLC40A1 (Ferroportin)
N8S (p.Asn8Ser) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N8S (p.Asn8Ser) variant details
- p.Asn8Ser
- gnomAD rs1250643463
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.23
- CADD 8.59
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available