T130I (p.Thr130Ile) variant of SLC40A1 (Ferroportin)
T130I (p.Thr130Ile) 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 0.68 / 1. The record also includes population frequency data and structural context.
T130I (p.Thr130Ile) variant details
- p.Thr130Ile
- rs915023560
- ClinGen CA62903706
- ClinVar RCV001756869
- gnomAD rs915023560
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.61
- CADD 25.20
- PolyPhen-2 0.58
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available