A104A (p.Ala104Ala) variant of TUBA1A (Tubulin alpha-1A chain)
A104A (p.Ala104Ala) in TUBA1A (Tubulin alpha-1A chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A104A (p.Ala104Ala) variant details
- p.Ala104Ala
- gnomAD 12-49186510-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 3.74
- Most common in the HGDP:OROQEN population (allele frequency 0.12)
- Structural context available
- Literature evidence available