G23A (p.Gly23Ala) variant of CACNA1B (Q00975)
G23A (p.Gly23Ala) in CACNA1B (Q00975) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G23A (p.Gly23Ala) variant details
- p.Gly23Ala
- gnomAD 9-137877997-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available