S138F (p.Ser138Phe) variant of TUBB2B (Tubulin beta-2B chain)
S138F (p.Ser138Phe) in TUBB2B (Tubulin beta-2B chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S138F (p.Ser138Phe) variant details
- p.Ser138Phe
- gnomAD 6-3225676-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.89
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available