p.Pro108dup variant of TUBA1A (Tubulin alpha-1A chain)
p.Pro108dup in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro108dup variant details
- gnomAD 12-49186512-C-CGG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 1.29
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available
- Literature evidence available