P117L (p.Pro117Leu) variant of TFRC (Transferrin receptor protein 1)
P117L (p.Pro117Leu) 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 0.20 / 1. The record also includes population frequency data and structural context.
P117L (p.Pro117Leu) variant details
- p.Pro117Leu
- ExAC rs776799647
- TOPMed rs776799647
- gnomAD rs776799647
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.13
- CADD 10.60
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available