G10V (p.Gly10Val) variant of CACNA1B (Q00975)
G10V (p.Gly10Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- gnomAD 9-137877962-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.33
- MetaLR 0.78
- MetaSVM 0.53
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available