N55S (p.Asn55Ser) variant of TFRC (Transferrin receptor protein 1)
N55S (p.Asn55Ser) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from ClinVar 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 0.05 / 1. The record also includes population frequency data and structural context.
N55S (p.Asn55Ser) variant details
- p.Asn55Ser
- cosmic curated COSV64054
- TOPMed rs976470564
- gnomAD rs976470564
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0542
- REVEL 0.04
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.96
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available