A8T (p.Ala8Thr) variant of TFRC (Transferrin receptor protein 1)
A8T (p.Ala8Thr) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- cosmic curated COSV64055
- ExAC rs748123250
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.03
- CADD 18.80
- PolyPhen-2 0.05
- SIFT 0.43
- Population evidence available
- Structural context available