G17A (p.Gly17Ala) variant of CACNA1C (Q13936)
G17A (p.Gly17Ala) 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.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- rs747083495
- gnomAD 12-2115224-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.57
- CADD 27.60
- PolyPhen-2 0.06
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available