T94R (p.Thr94Arg) variant of TUBA1A (Tubulin alpha-1A chain)
T94R (p.Thr94Arg) in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T94R (p.Thr94Arg) variant details
- p.Thr94Arg
- rs2121247402
- gnomAD 12-49186565-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 7.59
- SIFT 0.07
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.12)
- Structural context available
- Literature evidence available