K19E (p.Lys19Glu) variant of TUBB3 (Tubulin beta-3 chain)
K19E (p.Lys19Glu) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K19E (p.Lys19Glu) variant details
- p.Lys19Glu
- gnomAD 16-89923456-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.35
- CADD 27.60
- PolyPhen-2 0.10
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available