S54S (p.Ser54Ser) variant of TUBA1A (Tubulin alpha-1A chain)
S54S (p.Ser54Ser) in TUBA1A (Tubulin alpha-1A chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S54S (p.Ser54Ser) variant details
- p.Ser54Ser
- rs1414252366
- gnomAD 12-49186597-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 5.79
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available