K29* (p.Lys29Ter) variant of TTR (Transthyretin)
K29* (p.Lys29Ter) in TTR (Transthyretin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
K29* (p.Lys29Ter) variant details
- p.Lys29Ter
- rs1323375123
- ClinGen CA402156487
- ClinVar RCV003740621
- gnomAD rs1323375123
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.12
- MetaLR 0.83
- MetaSVM 0.69
- CADD 37.00
- PolyPhen-2 0.20
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available