S7T (p.Ser7Thr) variant of TFRC (Transferrin receptor protein 1)
S7T (p.Ser7Thr) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S7T (p.Ser7Thr) variant details
- p.Ser7Thr
- ExAC rs755597603
- gnomAD rs755597603
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.08
- CADD 20.20
- PolyPhen-2 0.19
- SIFT 0.14
- Population evidence available
- Structural context available