A54T (p.Ala54Thr) variant of TFRC (Transferrin receptor protein 1)
A54T (p.Ala54Thr) in TFRC (Transferrin receptor protein 1) is a missense change. 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.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- Ensembl rs1718581382
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.04
- CADD 3.55
- PolyPhen-2 0.01
- SIFT 0.26
- Population evidence available
- Structural context available