T150A (p.Thr150Ala) variant of SLC40A1 (Ferroportin)
T150A (p.Thr150Ala) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
T150A (p.Thr150Ala) variant details
- p.Thr150Ala
- rs954631081
- ClinGen CA62903700
- ClinVar RCV003367072
- Ensembl rs954631081
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.52
- CADD 22.50
- PolyPhen-2 0.25
- SIFT 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)