M8R (p.Met8Arg) variant of CACNA1C (Q13936)
M8R (p.Met8Arg) 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.
M8R (p.Met8Arg) variant details
- p.Met8Arg
- rs1336181222
- gnomAD 12-2053585-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.57
- CADD 24.70
- PolyPhen-2 0.77
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available