G24R (p.Gly24Arg) variant of CACNA1B (Q00975)
G24R (p.Gly24Arg) 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.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- gnomAD 9-137877996-CCGGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 26.40
- Population evidence available
- Structural context available
- Literature evidence available