E19G (p.Glu19Gly) variant of CACNA1B (Q00975)
E19G (p.Glu19Gly) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- gnomAD 9-137877989-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.19
- MetaLR 0.55
- MetaSVM -0.32
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available