G16A (p.Gly16Ala) variant of CACNA1B (Q00975)
G16A (p.Gly16Ala) in CACNA1B (Q00975) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G16A (p.Gly16Ala) variant details
- p.Gly16Ala
- rs1447877777
- gnomAD 9-137877974-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 17.70
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available