G10C (p.Gly10Cys) variant of CACNA1B (Q00975)
G10C (p.Gly10Cys) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- gnomAD 9-137877961-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.40
- MetaLR 0.77
- MetaSVM 0.36
- CADD 23.40
- PolyPhen-2 0.37
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available