V120A (p.Val120Ala) variant of TUBB3 (Tubulin beta-3 chain)
V120A (p.Val120Ala) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
V120A (p.Val120Ala) variant details
- p.Val120Ala
- gnomAD rs1162346170
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.70
- CADD 28.50
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available