G17D (p.Gly17Asp) variant of CACNA1B (Q00975)
G17D (p.Gly17Asp) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- gnomAD 9-137877983-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.37
- MetaLR 0.85
- MetaSVM 0.14
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available