M50C (p.Met50Cys) variant of CACNA1E (Q15878)
M50C (p.Met50Cys) in CACNA1E (Q15878) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
M50C (p.Met50Cys) variant details
- p.Met50Cys
- gnomAD 1-181413338-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available