G33A (p.Gly33Ala) variant of CACNA1B (Q00975)
G33A (p.Gly33Ala) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G33A (p.Gly33Ala) variant details
- p.Gly33Ala
- gnomAD 9-137878031-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.39
- MetaLR 0.67
- MetaSVM 0.28
- CADD 22.10
- PolyPhen-2 0.47
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available