A72G (p.Ala72Gly) variant of TFRC (Transferrin receptor protein 1)
A72G (p.Ala72Gly) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A72G (p.Ala72Gly) variant details
- p.Ala72Gly
- ExAC rs760231105
- gnomAD rs760231105
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.25
- CADD 22.30
- PolyPhen-2 0.99
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available