G30V (p.Gly30Val) variant of CACNA1B (Q00975)
G30V (p.Gly30Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- gnomAD 9-137878022-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.47
- MetaLR 0.83
- MetaSVM 0.56
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available