V42E (p.Val42Glu) variant of TFRC (Transferrin receptor protein 1)
V42E (p.Val42Glu) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
V42E (p.Val42Glu) variant details
- p.Val42Glu
- Ensembl rs1718586021
- Missense
- Variant Prioritization Score for Impact Estimate 0.0678
- REVEL 0.04
- CADD 5.03
- PolyPhen-2 0.08
- SIFT 0.31
- Population evidence available
- Structural context available