K60E (p.Lys60Glu) variant of TFRC (Transferrin receptor protein 1)
K60E (p.Lys60Glu) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K60E (p.Lys60Glu) variant details
- p.Lys60Glu
- rs368317794
- ClinGen CA2778383
- ClinVar RCV002760173
- ClinVar RCV006397092
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.15
- CADD 14.50
- PolyPhen-2 0.08
- SIFT 0.20
- 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)