G28W (p.Gly28Trp) variant of CACNA1B (Q00975)
G28W (p.Gly28Trp) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G28W (p.Gly28Trp) variant details
- p.Gly28Trp
- Ensembl rs1956857631
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.67
- MetaLR 0.86
- MetaSVM 0.77
- CADD 27.30
- PolyPhen-2 0.73
- SIFT 0.02
- Population evidence available
- Structural context available