S14R (p.Ser14Arg) variant of CACNA1E (Q15878)
S14R (p.Ser14Arg) in CACNA1E (Q15878) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S14R (p.Ser14Arg) variant details
- p.Ser14Arg
- gnomAD 1-181413173-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available