N47K (p.Asn47Lys) variant of TFRC (Transferrin receptor protein 1)
N47K (p.Asn47Lys) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
N47K (p.Asn47Lys) variant details
- p.Asn47Lys
- rs778795194
- ClinGen CA2778387
- ClinVar RCV002932232
- ExAC rs778795194
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.03
- CADD 10.70
- PolyPhen-2 0.04
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available