I79V (p.Ile79Val) variant of TFRC (Transferrin receptor protein 1)
I79V (p.Ile79Val) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I79V (p.Ile79Val) variant details
- p.Ile79Val
- ExAC rs778050850
- gnomAD rs778050850
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.12
- CADD 23.30
- PolyPhen-2 0.56
- SIFT 0.09
- Population evidence available
- Structural context available