Y20H (p.Tyr20His) variant of SLC40A1 (Ferroportin)
Y20H (p.Tyr20His) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Y20H (p.Tyr20His) variant details
- p.Tyr20His
- TOPMed rs1379715048
- gnomAD rs1379715048
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.82
- CADD 31.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available