E44A (p.Glu44Ala) variant of TFRC (Transferrin receptor protein 1)
E44A (p.Glu44Ala) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E44A (p.Glu44Ala) variant details
- p.Glu44Ala
- gnomAD rs1354197677
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.10
- CADD 23.30
- PolyPhen-2 0.91
- SIFT 0.12
- Population evidence available
- Structural context available