H116R (p.His116Arg) variant of SLC40A1 (Ferroportin)
H116R (p.His116Arg) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
H116R (p.His116Arg) variant details
- p.His116Arg
- gnomAD rs2031175738
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.36
- CADD 23.20
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available