T12I (p.Thr12Ile) variant of CACNB2 (Q08289)
T12I (p.Thr12Ile) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T12I (p.Thr12Ile) variant details
- p.Thr12Ile
- gnomAD 10-18140771-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.12
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available