G23V (p.Gly23Val) variant of CACNA1B (Q00975)
G23V (p.Gly23Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- TOPMed rs1956857227
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.52
- MetaLR 0.78
- MetaSVM 0.27
- CADD 20.50
- PolyPhen-2 0.31
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available