L122P (p.Leu122Pro) variant of TFRC (Transferrin receptor protein 1)
L122P (p.Leu122Pro) in TFRC (Transferrin receptor protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L122P (p.Leu122Pro) variant details
- p.Leu122Pro
- rs1258047132
- gnomAD 3-196027185-GGA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 19.20
- Population evidence available
- Structural context available
- Literature evidence available