K29V (p.Lys29Val) variant of TTR (Transthyretin)
K29V (p.Lys29Val) in TTR (Transthyretin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K29V (p.Lys29Val) variant details
- p.Lys29Val
- gnomAD 18-31592910-CAA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 26.70
- Population evidence available
- Structural context available
- Literature evidence available