G18W (p.Gly18Trp) variant of CACNA1A (O00555)
G18W (p.Gly18Trp) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G18W (p.Gly18Trp) variant details
- p.Gly18Trp
- TOPMed rs1434963414
- gnomAD rs1434963414
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.63
- MetaLR 0.89
- MetaSVM 0.92
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available