A104P (p.Ala104Pro) variant of TUBA1A (Tubulin alpha-1A chain)
A104P (p.Ala104Pro) in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A104P (p.Ala104Pro) variant details
- p.Ala104Pro
- rs373434518
- gnomAD 12-49186512-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- CADD 2.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available