G33C (p.Gly33Cys) variant of CACNA1B (Q00975)
G33C (p.Gly33Cys) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G33C (p.Gly33Cys) variant details
- p.Gly33Cys
- gnomAD 9-137878030-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.64
- MetaLR 0.87
- MetaSVM 0.90
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available