E46G (p.Glu46Gly) variant of TFRC (Transferrin receptor protein 1)
E46G (p.Glu46Gly) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E46G (p.Glu46Gly) variant details
- p.Glu46Gly
- TOPMed rs1298004536
- gnomAD rs1298004536
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.16
- CADD 24.90
- PolyPhen-2 0.66
- SIFT 0.03
- Population evidence available
- Structural context available