K19K (p.Lys19Lys) variant of TUBB3 (Tubulin beta-3 chain)
K19K (p.Lys19Lys) in TUBB3 (Tubulin beta-3 chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
K19K (p.Lys19Lys) variant details
- p.Lys19Lys
- rs2029958305
- gnomAD 16-89923458-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 26.20
- Population evidence available
- Structural context available
- Literature evidence available