V113A (p.Val113Ala) variant of SLC40A1 (Ferroportin)
V113A (p.Val113Ala) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SLC40A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V113A (p.Val113Ala) variant details
- p.Val113Ala
- TOPMed rs1400078305
- gnomAD rs1400078305
- Uncertain significance
- SLC40A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.73
- CADD 27.00
- PolyPhen-2 0.90
- SIFT 0.02
- ClinVar: Uncertain significance (SLC40A1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available