T104I (p.Thr104Ile) variant of TFRC (Transferrin receptor protein 1)
T104I (p.Thr104Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T104I (p.Thr104Ile) variant details
- p.Thr104Ile
- rs2473991029
- ClinGen CA355578286
- ClinVar RCV002295230
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.08
- CADD 6.34
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available