S54P (p.Ser54Pro) variant of TUBA1A (Tubulin alpha-1A chain)
S54P (p.Ser54Pro) in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S54P (p.Ser54Pro) variant details
- p.Ser54Pro
- rs1260434535
- gnomAD 12-49186554-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 4.33
- SIFT 0.13
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.55)
- Structural context available
- Literature evidence available