G14P (p.Gly14Pro) variant of CACNA1B (Q00975)
G14P (p.Gly14Pro) 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.
G14P (p.Gly14Pro) variant details
- p.Gly14Pro
- gnomAD 9-137877969-TGG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 25.60
- Most common in the East Asian population (allele frequency 8.1e-05)
- Structural context available
- Literature evidence available