R48R (p.Arg48Arg) variant of CACNA1E (Q15878)
R48R (p.Arg48Arg) in CACNA1E (Q15878) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R48R (p.Arg48Arg) variant details
- p.Arg48Arg
- gnomAD 1-181413288-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 8.82
- Population evidence available
- Structural context available
- Literature evidence available