K53E (p.Lys53Glu) variant of TFRC (Transferrin receptor protein 1)
K53E (p.Lys53Glu) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K53E (p.Lys53Glu) variant details
- p.Lys53Glu
- gnomAD rs1473065630
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.04
- CADD 3.19
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available