G14A (p.Gly14Ala) variant of CACNA1B (Q00975)
G14A (p.Gly14Ala) in CACNA1B (Q00975) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G14A (p.Gly14Ala) variant details
- p.Gly14Ala
- gnomAD 9-137877969-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available