G24C (p.Gly24Cys) variant of CACNA1B (Q00975)
G24C (p.Gly24Cys) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G24C (p.Gly24Cys) variant details
- p.Gly24Cys
- gnomAD 9-137878003-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.62
- MetaLR 0.81
- MetaSVM 0.52
- CADD 25.70
- PolyPhen-2 0.58
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available