H6L (p.His6Leu) variant of TUBB3 (Tubulin beta-3 chain)
H6L (p.His6Leu) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H6L (p.His6Leu) variant details
- p.His6Leu
- gnomAD 16-89923418-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.32
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available