C12S (p.Cys12Ser) variant of TUBB3 (Tubulin beta-3 chain)
C12S (p.Cys12Ser) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C12S (p.Cys12Ser) variant details
- p.Cys12Ser
- gnomAD 16-89923435-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.51
- CADD 25.50
- PolyPhen-2 0.17
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available