R11H (p.Arg11His) variant of CACNA1A (O00555)
R11H (p.Arg11His) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- ExAC rs762592657
- gnomAD rs762592657
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.60
- MetaLR 0.90
- MetaSVM 0.92
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available