N47K (p.Asn47Lys) variant of TTR (Transthyretin)
N47K (p.Asn47Lys) in TTR (Transthyretin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N47K (p.Asn47Lys) variant details
- p.Asn47Lys
- TOPMed rs1252826226
- gnomAD rs1252826226
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.33
- MetaLR 0.72
- MetaSVM -0.37
- CADD 0.00
- SIFT 0.14
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available