G25W (p.Gly25Trp) variant of CACNA1B (Q00975)
G25W (p.Gly25Trp) 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, published literature, and structural context.
G25W (p.Gly25Trp) variant details
- p.Gly25Trp
- gnomAD 9-137878006-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.63
- MetaLR 0.91
- MetaSVM 0.98
- CADD 28.30
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available