A102V (p.Ala102Val) variant of TFRC (Transferrin receptor protein 1)
A102V (p.Ala102Val) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A102V (p.Ala102Val) variant details
- p.Ala102Val
- rs760181667
- gnomAD 3-196027226-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0854
- CADD 0.67
- Population evidence available
- Structural context available
- Literature evidence available