R64G (p.Arg64Gly) variant of TUBA1A (Tubulin alpha-1A chain)
R64G (p.Arg64Gly) in TUBA1A (Tubulin alpha-1A chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R64G (p.Arg64Gly) variant details
- p.Arg64Gly
- gnomAD 12-49186646-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 22.00
- Most common in the HGDP:OROQEN population (allele frequency 0.12)
- Structural context available
- Literature evidence available