L122H (p.Leu122His) variant of TFRC (Transferrin receptor protein 1)
L122H (p.Leu122His) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L122H (p.Leu122His) variant details
- p.Leu122His
- rs2108620419
- gnomAD 3-196027187-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 13.40
- Population evidence available
- Structural context available
- Literature evidence available