A102T (p.Ala102Thr) variant of TFRC (Transferrin receptor protein 1)
A102T (p.Ala102Thr) 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 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
A102T (p.Ala102Thr) variant details
- p.Ala102Thr
- rs752349775
- ClinGen CA2778339
- ClinVar RCV003172714
- ExAC rs752349775
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0501
- REVEL 0.03
- CADD 2.66
- PolyPhen-2 0.00
- SIFT 0.30
- 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)