I83F (p.Ile83Phe) variant of TFRC (Transferrin receptor protein 1)
I83F (p.Ile83Phe) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I83F (p.Ile83Phe) variant details
- p.Ile83Phe
- rs367854499
- ClinGen CA90760866
- ClinVar RCV002855175
- ESP rs367854499
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- AlphaMissense 0.20
- MetaLR 0.17
- MetaSVM -0.91
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.27
- ClinVar: Uncertain significance (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)