L122V (p.Leu122Val) variant of TFRC (Transferrin receptor protein 1)
L122V (p.Leu122Val) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L122V (p.Leu122Val) variant details
- p.Leu122Val
- rs1325912482
- gnomAD 3-196027188-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.32
- Population evidence available
- Structural context available
- Literature evidence available