A24V (p.Ala24Val) variant of SLC40A1 (Ferroportin)
A24V (p.Ala24Val) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- rs749417873
- ClinGen CA2024318
- ClinVar RCV002223417
- ExAC rs749417873
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.75
- CADD 29.80
- PolyPhen-2 0.74
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available