S54F (p.Ser54Phe) variant of TUBA1A (Tubulin alpha-1A chain)
S54F (p.Ser54Phe) in TUBA1A (Tubulin alpha-1A 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.
S54F (p.Ser54Phe) variant details
- p.Ser54Phe
- rs1426550045
- gnomAD 12-49186580-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 11.60
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available