S106Q (p.Ser106Gln) variant of TFRC (Transferrin receptor protein 1)
S106Q (p.Ser106Gln) in TFRC (Transferrin receptor protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S106Q (p.Ser106Gln) variant details
- p.Ser106Gln
- gnomAD 3-196027218-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 17.70
- Population evidence available
- Structural context available
- Literature evidence available