G9V (p.Gly9Val) variant of CACNA1B (Q00975)
G9V (p.Gly9Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- gnomAD 9-137877959-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.33
- MetaLR 0.57
- MetaSVM -0.35
- CADD 20.20
- PolyPhen-2 0.08
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available