G17D (p.Gly17Asp) variant of CACNA1C (Q13936)
G17D (p.Gly17Asp) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- rs747083495
- gnomAD 12-2115224-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.53
- CADD 32.00
- PolyPhen-2 0.40
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available