P117S (p.Pro117Ser) variant of TFRC (Transferrin receptor protein 1)
P117S (p.Pro117Ser) 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 0.23 / 1. The record also includes population frequency data and structural context.
P117S (p.Pro117Ser) variant details
- p.Pro117Ser
- cosmic curated COSV64054
- TOPMed rs1406331744
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.10
- CADD 14.70
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available