S16C (p.Ser16Cys) variant of SLC40A1 (Ferroportin)
S16C (p.Ser16Cys) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S16C (p.Ser16Cys) variant details
- p.Ser16Cys
- gnomAD rs1180451928
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.71
- CADD 26.90
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available