G31W (p.Gly31Trp) variant of CACNA1B (Q00975)
G31W (p.Gly31Trp) in CACNA1B (Q00975) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G31W (p.Gly31Trp) variant details
- p.Gly31Trp
- gnomAD 9-137878023-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available