E3K (p.Glu3Lys) variant of TUBB3 (Tubulin beta-3 chain)
E3K (p.Glu3Lys) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- ExAC rs754904954
- gnomAD rs754904954
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.75
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available