T12A (p.Thr12Ala) variant of CACNB2 (Q08289)
T12A (p.Thr12Ala) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T12A (p.Thr12Ala) variant details
- p.Thr12Ala
- gnomAD 10-18140770-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.21
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available