A104R (p.Ala104Arg) variant of TUBA1A (Tubulin alpha-1A chain)
A104R (p.Ala104Arg) in TUBA1A (Tubulin alpha-1A chain) is a protein-truncating 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.
A104R (p.Ala104Arg) variant details
- p.Ala104Arg
- gnomAD 12-49186512-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 1.34
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available