H125Y (p.His125Tyr) variant of SLC40A1 (Ferroportin)
H125Y (p.His125Tyr) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
H125Y (p.His125Tyr) variant details
- p.His125Tyr
- rs568086191
- ClinGen CA2024246
- ClinVar RCV003486252
- ClinVar RCV005495566
- Uncertain significance
- Inborn genetic diseases; Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.30
- CADD 22.30
- PolyPhen-2 0.14
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)