A102S (p.Ala102Ser) variant of TFRC (Transferrin receptor protein 1)
A102S (p.Ala102Ser) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A102S (p.Ala102Ser) variant details
- p.Ala102Ser
- ExAC rs752349775
- TOPMed rs752349775
- gnomAD rs752349775
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0466
- REVEL 0.03
- CADD 0.42
- PolyPhen-2 0.00
- SIFT 0.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available