A104T (p.Ala104Thr) variant of TUBA1A (Tubulin alpha-1A chain)
A104T (p.Ala104Thr) in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A104T (p.Ala104Thr) variant details
- p.Ala104Thr
- gnomAD 12-49186375-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.83
- MetaLR 0.65
- MetaSVM 0.62
- CADD 24.00
- PolyPhen-2 0.17
- SIFT 0.32
- Most common in the HGDP:OROQEN population (allele frequency 0.12)
- Structural context available
- Literature evidence available