G5W (p.Gly5Trp) variant of CACNA1B (Q00975)
G5W (p.Gly5Trp) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G5W (p.Gly5Trp) variant details
- p.Gly5Trp
- gnomAD 9-137877946-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.76
- MetaLR 0.92
- MetaSVM 1.02
- CADD 26.40
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available