R3S (p.Arg3Ser) variant of CACNA1E (Q15878)
R3S (p.Arg3Ser) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- gnomAD 1-181413162-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available