T12P (p.Thr12Pro) variant of CACNB2 (Q08289)
T12P (p.Thr12Pro) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T12P (p.Thr12Pro) variant details
- p.Thr12Pro
- gnomAD 10-18140770-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.19
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available