E97Q (p.Glu97Gln) variant of TFRC (Transferrin receptor protein 1)
E97Q (p.Glu97Gln) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E97Q (p.Glu97Gln) variant details
- p.Glu97Gln
- rs765455849
- ClinGen CA2778340
- ClinVar RCV002716822
- ClinVar RCV006397085
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.06
- CADD 1.65
- PolyPhen-2 0.06
- SIFT 0.40
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)