G33D (p.Gly33Asp) variant of CACNA1B (Q00975)
G33D (p.Gly33Asp) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G33D (p.Gly33Asp) variant details
- p.Gly33Asp
- gnomAD 9-137878031-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.54
- MetaLR 0.78
- MetaSVM 0.56
- CADD 24.30
- PolyPhen-2 0.47
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available