G16D (p.Gly16Asp) variant of CACNA1B (Q00975)
G16D (p.Gly16Asp) 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.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- gnomAD 9-137877980-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.52
- MetaLR 0.85
- MetaSVM 0.74
- CADD 24.30
- PolyPhen-2 0.74
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available