V97L (p.Val97Leu) variant of SLC40A1 (Ferroportin)
V97L (p.Val97Leu) in SLC40A1 (Ferroportin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V97L (p.Val97Leu) variant details
- p.Val97Leu
- gnomAD rs886055361
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.18
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.37
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available