L78F (p.Leu78Phe) variant of TFRC (Transferrin receptor protein 1)
L78F (p.Leu78Phe) 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.
L78F (p.Leu78Phe) variant details
- p.Leu78Phe
- ExAC rs749512801
- gnomAD rs749512801
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.06
- CADD 14.90
- PolyPhen-2 0.02
- SIFT 0.07
- Population evidence available
- Structural context available