R40Q (p.Arg40Gln) variant of SLC40A1 (Ferroportin)
R40Q (p.Arg40Gln) 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; Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- rs746832217
- ClinGen CA2024293
- ClinVar RCV001919692
- ClinVar RCV004671532
- Uncertain significance
- Inborn genetic diseases; Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.86
- CADD 29.50
- PolyPhen-2 0.81
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)