G23D (p.Gly23Asp) variant of CACNA1B (Q00975)
G23D (p.Gly23Asp) in CACNA1B (Q00975) is a missense 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.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- gnomAD 9-137878001-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.41
- MetaLR 0.77
- MetaSVM -0.00
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available