E111D (p.Glu111Asp) variant of TUBB2B (Tubulin beta-2B chain)
E111D (p.Glu111Asp) in TUBB2B (Tubulin beta-2B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E111D (p.Glu111Asp) variant details
- p.Glu111Asp
- gnomAD rs1286271941
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.52
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available