E165G (p.Glu165Gly) variant of SLC40A1 (Ferroportin)
E165G (p.Glu165Gly) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E165G (p.Glu165Gly) variant details
- p.Glu165Gly
- rs1426749167
- ClinGen CA349989087
- ClinVar RCV002774737
- TOPMed rs1426749167
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.26
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)