V9F (p.Val9Phe) variant of TUBA1A (Tubulin alpha-1A chain)
V9F (p.Val9Phe) in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V9F (p.Val9Phe) variant details
- p.Val9Phe
- gnomAD 12-49186812-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.74
- MetaLR 0.68
- MetaSVM 0.53
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available