E77K (p.Glu77Lys) variant of TUBA1A (Tubulin alpha-1A chain)
E77K (p.Glu77Lys) in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E77K (p.Glu77Lys) variant details
- p.Glu77Lys
- rs769866214
- gnomAD 12-49186608-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 13.90
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available