N47D (p.Asn47Asp) variant of TFRC (Transferrin receptor protein 1)
N47D (p.Asn47Asp) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N47D (p.Asn47Asp) variant details
- p.Asn47Asp
- 1000Genomes rs199637290
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.05
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available