R11C (p.Arg11Cys) variant of CACNA1E (Q15878)
R11C (p.Arg11Cys) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- rs1335031644
- gnomAD 1-181413180-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available