G30W (p.Gly30Trp) variant of CACNA1B (Q00975)
G30W (p.Gly30Trp) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G30W (p.Gly30Trp) variant details
- p.Gly30Trp
- gnomAD 9-137878021-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.64
- MetaLR 0.89
- MetaSVM 0.90
- CADD 25.60
- PolyPhen-2 0.62
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available