G5V (p.Gly5Val) variant of CACNA1A (O00555)
G5V (p.Gly5Val) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD rs1300034585
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.55
- MetaLR 0.83
- MetaSVM 0.75
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available