V9I (p.Val9Ile) variant of TUBA1A (Tubulin alpha-1A chain)
V9I (p.Val9Ile) in TUBA1A (Tubulin alpha-1A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- TOPMed rs1942187442
- gnomAD rs1942187442
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.18
- MetaLR 0.20
- MetaSVM -0.88
- CADD 20.00
- SIFT 0.37
- Most common in the HGDP:ORCADIAN population (allele frequency 0.5)
- Structural context available