G5V (p.Gly5Val) variant of CACNA1B (Q00975)
G5V (p.Gly5Val) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD 9-137877947-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.57
- MetaLR 0.83
- MetaSVM 0.81
- CADD 23.30
- PolyPhen-2 0.13
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available