T12R (p.Thr12Arg) variant of CACNB2 (Q08289)
T12R (p.Thr12Arg) 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 and structural context.
T12R (p.Thr12Arg) variant details
- p.Thr12Arg
- 1000Genomes rs574680412
- TOPMed rs574680412
- gnomAD rs574680412
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.13
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available