I152V (p.Ile152Val) variant of SLC40A1 (Ferroportin)
I152V (p.Ile152Val) in SLC40A1 (Ferroportin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
I152V (p.Ile152Val) variant details
- p.Ile152Val
- rs1328696186
- gnomAD rs1328696186
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.64
- CADD 24.90
- PolyPhen-2 0.51
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available