M8T (p.Met8Thr) variant of CACNA1C (Q13936)
M8T (p.Met8Thr) in CACNA1C (Q13936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M8T (p.Met8Thr) variant details
- p.Met8Thr
- gnomAD 12-2053585-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.46
- CADD 23.70
- PolyPhen-2 0.77
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available