S147N (p.Ser147Asn) variant of SLC40A1 (Ferroportin)
S147N (p.Ser147Asn) 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 published literature and structural context.
S147N (p.Ser147Asn) variant details
- p.Ser147Asn
- rs987371643
- ClinGen CA349989202
- ClinVar RCV003271831
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- AlphaMissense 0.49
- MetaLR 0.57
- MetaSVM -0.02
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)