A110V (p.Ala110Val) variant of TUBB3 (Tubulin beta-3 chain)
A110V (p.Ala110Val) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A110V (p.Ala110Val) variant details
- p.Ala110Val
- cosmic curated COSV59248
- TOPMed rs1186388176
- gnomAD rs1186388176
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.58
- CADD 25.30
- PolyPhen-2 0.88
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available