C12R (p.Cys12Arg) variant of TUBB3 (Tubulin beta-3 chain)
C12R (p.Cys12Arg) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
C12R (p.Cys12Arg) variant details
- p.Cys12Arg
- gnomAD 16-89923435-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.68
- CADD 26.80
- PolyPhen-2 0.33
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available