E27E (p.Glu27Glu) variant of TUBA1A (Tubulin alpha-1A chain)
E27E (p.Glu27Glu) in TUBA1A (Tubulin alpha-1A chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E27E (p.Glu27Glu) variant details
- p.Glu27Glu
- rs1592260513
- gnomAD 12-49186756-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 12.20
- SIFT 0.62
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.55)
- Structural context available
- Literature evidence available