T104A (p.Thr104Ala) variant of TFRC (Transferrin receptor protein 1)
T104A (p.Thr104Ala) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; TFRC-related combined immunodeficiency; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
T104A (p.Thr104Ala) variant details
- p.Thr104Ala
- rs201408488
- ClinGen CA2778334
- cosmic curated COSV64054
- ClinVar RCV002102645
- Conflicting interpretations
- not provided; TFRC-related combined immunodeficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0472
- REVEL 0.04
- CADD 0.68
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (not provided; TFRC-related combined immunodeficiency; not specif)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available