V5L (p.Val5Leu) variant of TUBB3 (Tubulin beta-3 chain)
V5L (p.Val5Leu) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- ExAC rs781135980
- TOPMed rs781135980
- gnomAD rs781135980
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.33
- CADD 24.00
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available