G31A (p.Gly31Ala) variant of CACNA1B (Q00975)
G31A (p.Gly31Ala) in CACNA1B (Q00975) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G31A (p.Gly31Ala) variant details
- p.Gly31Ala
- rs776819631
- gnomAD 9-137878019-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 23.10
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available