Y88C (p.Tyr88Cys) variant of TFRC (Transferrin receptor protein 1)
Y88C (p.Tyr88Cys) 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 0.40 / 1. The record also includes population frequency data and structural context.
Y88C (p.Tyr88Cys) variant details
- p.Tyr88Cys
- rs781268657
- ClinGen CA2778346
- ClinVar RCV001994172
- ExAC rs781268657
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.30
- CADD 24.70
- PolyPhen-2 0.82
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available