G9C (p.Gly9Cys) variant of CACNA1B (Q00975)
G9C (p.Gly9Cys) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G9C (p.Gly9Cys) variant details
- p.Gly9Cys
- Ensembl rs1956856033
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.38
- MetaLR 0.66
- MetaSVM 0.14
- CADD 23.30
- PolyPhen-2 0.44
- SIFT 0.00
- Population evidence available
- Structural context available