Q22E (p.Gln22Glu) variant of CACNB2 (Q08289)
Q22E (p.Gln22Glu) 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 and structural context.
Q22E (p.Gln22Glu) variant details
- p.Gln22Glu
- gnomAD rs1328545245
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.10
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available