A5T (p.Ala5Thr) variant of TFRC (Transferrin receptor protein 1)
A5T (p.Ala5Thr) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- cosmic curated COSV10820
- gnomAD rs1192505797
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.16
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.07
- Population evidence available
- Structural context available