E44K (p.Glu44Lys) variant of TFRC (Transferrin receptor protein 1)
E44K (p.Glu44Lys) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- Ensembl rs1416701248
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 0.88
- SIFT 0.07
- Population evidence available
- Structural context available