L110V (p.Leu110Val) variant of SLC40A1 (Ferroportin)
L110V (p.Leu110Val) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L110V (p.Leu110Val) variant details
- p.Leu110Val
- TOPMed rs1407674110
- gnomAD rs1407674110
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.75
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available