Q22R (p.Gln22Arg) variant of CACNB2 (Q08289)
Q22R (p.Gln22Arg) in CACNB2 (Q08289) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
Q22R (p.Gln22Arg) variant details
- p.Gln22Arg
- TOPMed rs988658582
- gnomAD rs988658582
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.11
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available