G16C (p.Gly16Cys) variant of CACNA1B (Q00975)
G16C (p.Gly16Cys) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- gnomAD 9-137877979-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.58
- MetaLR 0.89
- MetaSVM 0.93
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available