R6T (p.Arg6Thr) variant of TFRC (Transferrin receptor protein 1)
R6T (p.Arg6Thr) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R6T (p.Arg6Thr) variant details
- p.Arg6Thr
- gnomAD rs1478570989
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.39
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available