H125N (p.His125Asn) variant of SLC40A1 (Ferroportin)
H125N (p.His125Asn) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H125N (p.His125Asn) variant details
- p.His125Asn
- rs568086191
- ClinGen CA62903804
- ClinVar RCV001211436
- ClinVar RCV005732309
- Uncertain significance
- Inborn genetic diseases; Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.19
- CADD 18.10
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)