M8I (p.Met8Ile) variant of CACNA1C (Q13936)
M8I (p.Met8Ile) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
M8I (p.Met8Ile) variant details
- p.Met8Ile
- gnomAD 12-2053586-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.49
- CADD 24.10
- PolyPhen-2 0.58
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available